WorldWideScience

Sample records for trimester direct chromosome

  1. Value of first trimester epidemiologic and sonographic markers as chromosome-diseases risk indicators

    International Nuclear Information System (INIS)

    Llanusa Ruiz, Celia; Nodarse Rodriguez, Alfredo; Vazquez, Yovany Enrique; Carrillo Bermudez, Lourdes; Sanchez Lombana, Rita

    2009-01-01

    Prenatal screening of chromosomal anomalies using epidemiological and sonographic markers during the first trimester, allow identifying pregnant with high risk of chromosome disease; we offer the cytogenetics prenatal diagnosis as option

  2. Screening for fetal chromosome abnormalities during the second trimester

    International Nuclear Information System (INIS)

    Dong Hui; Li Ming; Li Ping

    2005-01-01

    Objective: To develop a pre -natal screening program for fetal chromosome abnormalities based on risk values calculated from maternal serum markers levels during the second trimester. Methods: Serum levels of AFP, β-HCG, uE 3 were determined with CLIA in 1048 pregnant women during 14-21w gestation period and the results were analyzed with a specific software (screening program for Down' s syndrome developed by Beckman) for the risk rate. In those women defined as being of high risk rate, cells from amniotic fluid or umbilical cord blood were studied for karyotype analysis. Results: Of these 1048 women, 77 were designated as being of high risk rate for several chromosome abnormalities i.e. Down's syndrome, open spina bifida and trisomy -18 syndrome (overall positive rate 7.3%). Further fetal chromosome study in 31 of them revealed three proven cases of abnormality. Another cord blood study was performed in a calculated low risk rate case but with abnormal sonographic finding at 31 w gestation and proved to be abnormal (software study false negative). The remaining 46 high risk rate cases either refused future study (n=35) or were lost for follow-up (n=11). Fortunately, all the 35 women refused further study gave birth to normal babies without any chromosome abnormalities discovered on peripheral blood study. Besides, in a trial study, five high risk rate women were again evaluated a few weeks later but with tremendous difference between the results. Conclusion: The present program proves to be clinically useful but needs further study and revision. Many factors may influence the result of the analysis and the duration of gestation period in weeks should be as accurate as possible. At present, in order to avoid getting false negatives, we don't advise a second check in 'high risk' cases. (authors)

  3. FIRST-TRIMESTER MATERNAL SERUM ALPHA-FETOPROTEIN AS A MARKER FOR FETAL CHROMOSOMAL DISORDERS

    NARCIS (Netherlands)

    VANLITH, JMM

    1994-01-01

    We evaluated first-trimester maternal serum alpha-fetoprotein (MS-AFP) as a marker for fetal chromosomal disorders. The multicentre study was performed under the auspices of the Dutch Working Party on Prenatal Diagnosis. MS-AFP was measured in 2404 normal pregnancies and 72 chromosomally abnormal

  4. First-trimester screening for chromosomal abnormalities: advantages of an instant results approach.

    Science.gov (United States)

    Norton, Mary E

    2010-09-01

    Protocols that include first trimester screening for fetal chromosome abnormalities have become standard of care throughout the United States. Earlier screening allows for first trimester diagnostic testing in cases found to be at increased risk. However, first trimester screening requires coordination of the nuchal translucency ultrasound screening (NT) and biochemical screening, during early, specific, narrow, but slightly different gestational age ranges. Instant results can often be provided at the time of the NT ultrasound if preceded by the programs that perform the biochemical analyses; this optimizes the benefits of the first trimester approach while improving efficiency and communication with the patient. This article discusses the benefits and logistics of such an approach. Copyright 2010 Elsevier Inc. All rights reserved.

  5. 1ST-TRIMESTER SCREENING FOR FETAL CHROMOSOMAL-ABNORMALITIES - PRELIMINARY-RESULTS

    NARCIS (Netherlands)

    VANLITH, JMM

    We have started a multicentre trial to study the possibilities of first-trimester maternal serum screening for fetal chromosomal abnormalities. Maternal blood samples were obtained before 13 weeks of gestation. We present the preliminary results of the first 950 patients on alpha-fetoprotein (AFP).

  6. Nuchal translucency thickness and outcome in chromosome translocation diagnosed in the first trimester.

    Science.gov (United States)

    Sepulveda, W; Be, C; Youlton, R; Carstens, E; Reyes, M

    2001-09-01

    In order to determine the significance of nuchal translucency thickness on the subsequent natural history of first-trimester fetuses with a chromosome translocation, seven consecutive cases diagnosed between 11 and 13 weeks of gestation were reviewed. Nuchal translucency measurements were successfully obtained before chorionic villus sampling (CVS) in all cases. Three fetuses had an unbalanced translocation and all were associated with increased nuchal translucency and multiple anomalies at the detailed second-trimester scan. There were no survivors in this group. The remaining four fetuses had a balanced translocation; all had normal nuchal translucency thickness and no structural anomalies were detected in the second trimester. Three of these fetuses were born at > or =35 weeks of gestation and were phenotypically normal. However, an unexpected single fetal demise occurred in a dichorionic twin pregnancy at 28 weeks of gestation. It is concluded that nuchal translucency measurements provide important prognostic information on pregnancy outcome in first-trimester fetuses with a chromosome translocation. In parents with a known balanced translocation, the detection of increased nuchal translucency at 11-14 weeks of gestation is associated with unbalanced translocations, structural anomalies and poor pregnancy outcome. Copyright 2001 John Wiley & Sons, Ltd.

  7. First-trimester maternal serum human thyroid-stimulating hormone in chromosomally normal and Down syndrome pregnancies

    NARCIS (Netherlands)

    Pratt, JJ; de Wolf, BTHM; Mantingh, A

    Maternal serum human thyroid-stimulating hormone (TSH) levels were investigated in chromosomally normal and Down syndrome pregnancies to determine whether TSH can be used as a marker for Down syndrome in the first trimester. Measurements were conducted on stored serum samples collected from 23 Down

  8. First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7

    Directory of Open Access Journals (Sweden)

    Lindsay B. Henderson

    2013-01-01

    Full Text Available Holoprosencephaly (HPE is a developmental defect in humans in which the forebrain fails to completely separate into two hemispheres. We describe a 12 3/7-week-old fetus found on ultrasound evaluation to have features consistent with HPE, including a single anterior ventricle, fused thalami, and a flattened profile. Cytogenetic analysis of chorionic villi revealed a ring chromosome 7 [r(7]. This uncommon finding has been associated with growth delay, microcephaly, and dermatologic abnormalities. However, both the clinical features and the extent of cytogenetic imbalance of chromosome 7 are variable, and few reported cases of r(7 have been molecularly studied. To our knowledge, this is the first report of a prenatally identified r(7, molecularly characterized using array comparative genomic hybridization.

  9. Second-trimester IL-15 and IL-18 levels in the amniotic fluid of fetuses with normal karyotypes and with chromosome abnormalities.

    Science.gov (United States)

    Klimkiewicz-Blok, Dominika; Florjański, Jerzy; Zalewski, Jerzy; Blok, Radosław

    2012-01-01

    Little is known about the behavior of interleukin 15 (IL-15) and 18 (IL-18) in the amniotic fluid in the second trimester of gestations complicated by chromosomal defects in the fetus. Likewise, it has not yet been established whether a fetus with chromosome abnormalities creates its immunity mechanisms in the same way as a fetus with a normal karyotype. The aim of this work was to assess the concentration of IL-15 and IL-18 in the amniotic fluid in the second trimester of gestation in fetuses with normal karyotypes and with chromosome abnormalities. The material consisted of 51 samples of amniotic fluid obtained from genetic amniocenteses carried out between the 15th and the 19th weeks of gestation. On the basis of cytogenetic screening, two groups were singled out: Group I--45 fetuses with normal karyotypes, and Group II--6 fetuses with abnormal karyotypes. The concentrations of IL-15 and IL-18 in the amniotic fluid were assessed with ready-made assays and analyzed, and the results from both groups were compared. The differences between the IL-15 levels in the amniotic fluid from Groups I and II proved to be statistically insignificant (p = 0.054). However, the average IL-18 levels in the amniotic fluid of the fetuses with normal karyotypes were significantly higher than in the amniotic fluid of the fetuses with chromosome abnormalities (p = 0.032). Some defense mechanisms in the second trimester of gestation in fetuses with chromosome abnormalities may develop in a different way than in fetuses with normal karyotypes.

  10. Advances in prenatal screening for Down syndrome: II first trimester testing, integrated testing, and future directions.

    Science.gov (United States)

    Benn, Peter A

    2002-10-01

    The acceptability of prenatal screening and diagnosis of Down syndrome is dependent, in part, on the gestational age at which the testing is offered. First trimester screening could be advantageous if it has sufficient efficacy and can be effectively delivered. Two first trimester maternal serum screening markers, pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotropin (beta-hCG), are useful for identifying women at increased risk for fetal Down syndrome. In addition, measurement of an enlarged thickness of the subcutaneous fluid-filled space at the back of the neck of the developing fetus (referred to as nuchal translucency or NT) has been demonstrated to be an indicator for these high-risk pregnancies. When these three parameters are combined, estimates for Down syndrome efficacy exceed those currently attainable in the second trimester. Women who are screen-positive in the first trimester can elect to receive cytogenetic testing of a chorionic villus biopsy. The first trimester tests could also, theoretically, be combined with the second trimester maternal serum screening tests (integrated screening) to obtain even higher levels of efficacy. There are, however, several practical limitations to first trimester and integrated screening. These include scheduling of testing within relatively narrow gestational age intervals, availability of appropriately trained ultrasonographers for NT measurement, risks associated with chorionic villus biopsy, and costs. There is also increasing evidence that an enlarged NT measurement is indicative of a high risk for spontaneous abortion and for fetal abnormalities that are not detectable by cytogenetic analysis. Women whose fetuses show enlarged NT, therefore, need first trimester counseling regarding their Down syndrome risks and the possibility of other adverse pregnancy outcomes. Follow-up ultrasound and fetal echocardiography in the second trimester are also indicated. First trimester

  11. Individualized correction for maternal weight in calculating the risk of chromosomal abnormalities with first-trimester screening data.

    Science.gov (United States)

    Merz, E; Thode, C; Eiben, B; Faber, R; Hackelöer, B J; Huesgen, G; Pruggmaier, M; Wellek, S

    2011-02-01

    In the algorithm developed by the Fetal Medicine Foundation (FMF) Germany designed to evaluate the findings of routine first-trimester screening, the false-positive rate (FPR) was determined for the entire study group without stratification by maternal weight. Based on the data received from the continuous audit we were able to identify an increase in the FPR for the weight-related subgroups of patients, particularly for patients with extremely high body weights. The aim of this study was to demonstrate that the variability of the FPR can be reduced through adjusting the concentrations of free β-HCG and PAPP-A measured in the maternal serum by means of a nonlinear regression function modeling the dependence of these values on maternal weight. The database used to establish a version of the algorithm enabling control of the FPR over the whole range of maternal weight consisted of n = 123 546 pregnancies resulting in the birth of a child without chromosomal anomalies. The group with positive outcomes covered n = 500 cases of trisomy 21 and n = 159 trisomies 13 or 18. The dependency of the serum parameters free β-HCG and PAPP-A on maternal weight was analyzed in the sample of negative outcomes by means of nonlinear regression. The fitted regression curve was of exponential form with negative slope. Using this model, all individual measurements were corrected through multiplication with a factor obtained as the ratio of the concentration level predicted by the model to belong to the average maternal body weight of 68.2 kg, over the ordinate of that point on the regression curve which belongs to the weight actually measured. Subsequently, the totality of all values of free β-HCG and PAPP-A corrected for deviation from average weight were used as input data for carrying out the construction of diagnostic discrimination rules described in our recent paper for a database to which no corrections for over- or under-weight had been applied. This entailed in particular the

  12. Direct chromosome-length haplotyping by single-cell sequencing

    NARCIS (Netherlands)

    Porubský, David; Sanders, Ashley D; van Wietmarschen, Niek; Falconer, Ester; Hills, Mark; Spierings, Diana C J; Bevova, Marianna R; Guryev, Victor; Lansdorp, Peter Michael

    Haplotypes are fundamental to fully characterize the diploid genome of an individual, yet methods to directly chart the unique genetic makeup of each parental chromosome are lacking. Here we introduce single-cell DNA template strand sequencing (Strand-seq) as a novel approach to phasing diploid

  13. Chromosome

    Science.gov (United States)

    ... St Louis, MO: Elsevier; 2017:chap 69. Taber's Medical Dictionary Online. Chromosome. www.tabers.com/tabersonline/view/Tabers-Dictionary/753321/all/chromosome?q=Chromosome&ti=0 . Accessed June 11, 2017.

  14. Fetal sex determination in the first trimester of pregnancy using a Y chromosome-specific DNA probe

    Energy Technology Data Exchange (ETDEWEB)

    Zeng, Y.; Huang, S.; Chen, M.; Huang, Y.; Zhang, M.; Dong, J.; Ku, A.; Xu, S.

    1987-05-01

    Prenatal determination of fetal sex is important for the prevention of X-linked disorders such as hemophilia, Lesch-Nyhan syndrome and Duchenne muscular dystrophy. The complex procedures of prenatal diagnosis for X-linked disorders are unnecessary if the fetus is female, because usually no clinical symptoms ever appear in female. pY 3.4 probe used in this work for sex determination is a 3.4 kilobase human repeat sequence. The probe is specific for the Y chromosome of males and can be used for sex determination. The other prove pBLUR used in this paper as control is a widely dispersed, highly repeated human Alu family DNA sequence, represented equally in male and female DNA. On the basis of the relative densities of the autoradiographic spots produced by hybridization of fetal DNA with pY3.4 and pBLUR, the sex of fetus can be clearly identified. Further the authors can determine the radioactive intensity (cpm) of the hybridized DNA spots and the ratio of hybridization with Y3.4 to pBLUR (Y3.4/pBLUR x 10). Results show that the hybridization ratio of DNA from chorionic villi of male (1.03 +/- 0.24) is significantly higher than that of female (0.16 +/- 0.09). Therefore, sex determination of the fetus can be made, based on the ratio of pY3.4/pBLUR x 10. If necessary they can also use Southern hybridization with pY 3.4 probe of DNA isolated from chorionic villi to confirm the result of dot hybridization.

  15. Directional genomic hybridization for chromosomal inversion discovery and detection.

    Science.gov (United States)

    Ray, F Andrew; Zimmerman, Erin; Robinson, Bruce; Cornforth, Michael N; Bedford, Joel S; Goodwin, Edwin H; Bailey, Susan M

    2013-04-01

    Chromosomal rearrangements are a source of structural variation within the genome that figure prominently in human disease, where the importance of translocations and deletions is well recognized. In principle, inversions-reversals in the orientation of DNA sequences within a chromosome-should have similar detrimental potential. However, the study of inversions has been hampered by traditional approaches used for their detection, which are not particularly robust. Even with significant advances in whole genome approaches, changes in the absolute orientation of DNA remain difficult to detect routinely. Consequently, our understanding of inversions is still surprisingly limited, as is our appreciation for their frequency and involvement in human disease. Here, we introduce the directional genomic hybridization methodology of chromatid painting-a whole new way of looking at structural features of the genome-that can be employed with high resolution on a cell-by-cell basis, and demonstrate its basic capabilities for genome-wide discovery and targeted detection of inversions. Bioinformatics enabled development of sequence- and strand-specific directional probe sets, which when coupled with single-stranded hybridization, greatly improved the resolution and ease of inversion detection. We highlight examples of the far-ranging applicability of this cytogenomics-based approach, which include confirmation of the alignment of the human genome database and evidence that individuals themselves share similar sequence directionality, as well as use in comparative and evolutionary studies for any species whose genome has been sequenced. In addition to applications related to basic mechanistic studies, the information obtainable with strand-specific hybridization strategies may ultimately enable novel gene discovery, thereby benefitting the diagnosis and treatment of a variety of human disease states and disorders including cancer, autism, and idiopathic infertility.

  16. Catheter directed thrombolysis for deep vein thrombosis during the first trimester of pregnancy: two case report

    International Nuclear Information System (INIS)

    Kim, Kum Rae; Park, Won Kyu; Kim, Jae Woon; Kwun, Woo Hyung; Suh, Bo Yang; Park, Kyeong Seok

    2008-01-01

    Anticoagulation with heparin has been the standard management therapy of deep vein thrombosis during pregnancy. Pregnancy is generally considered as a contraindication for thrombolysis. However, anticoagulation therapy alone does not protect the limbs from post-thrombotic syndrome and venous valve insufficiency. Catheter-directed thrombolysis, combined with angioplasty and stenting, can remove the thrombus and restore patency of the veins, resulting in prevention of post-thrombotic syndrome and valve insufficiency. We report successful catheter-directed thrombolysis and stenting in two early gestation patients with a deep vein thrombosis of the left lower extremity

  17. Catheter directed thrombolysis for deep vein thrombosis during the first trimester of pregnancy: two case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Kum Rae; Park, Won Kyu; Kim, Jae Woon; Kwun, Woo Hyung; Suh, Bo Yang [College of Medicine, Yeungnam University, Daegu (Korea, Republic of); Park, Kyeong Seok [Yeungnam University, Medical Center, Daegu (Korea, Republic of)

    2008-02-15

    Anticoagulation with heparin has been the standard management therapy of deep vein thrombosis during pregnancy. Pregnancy is generally considered as a contraindication for thrombolysis. However, anticoagulation therapy alone does not protect the limbs from post-thrombotic syndrome and venous valve insufficiency. Catheter-directed thrombolysis, combined with angioplasty and stenting, can remove the thrombus and restore patency of the veins, resulting in prevention of post-thrombotic syndrome and valve insufficiency. We report successful catheter-directed thrombolysis and stenting in two early gestation patients with a deep vein thrombosis of the left lower extremity.

  18. Molecular genetic characterization of a prenatally detected de novo interstitial deletion of chromosome 2q (2q31.1-q32.1 encompassing HOXD13, ZNF385B and ZNF804A associated with syndactyly and increased first-trimester nuchal translucency

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2017-06-01

    Conclusion: Fetuses with an interstitial deletion of 2q31.1-q32.1 may be associated with increased first-trimester NT. Haploinsufficiency of HOXD13 is associated with syndactyly. Genomic microarray is useful in detecting subtle chromosomal abnormalities in fetuses with increased NT and normal karyotype.

  19. Direct kinetochore?spindle pole connections are not required for chromosome segregation

    OpenAIRE

    Sikirzhytski, Vitali; Magidson, Valentin; Steinman, Jonathan B.; He, Jie; Le Berre, Ma?l; Tikhonenko, Irina; Ault, Jeffrey G.; McEwen, Bruce F.; Chen, James K.; Sui, Haixin; Piel, Matthieu; Kapoor, Tarun M.; Khodjakov, Alexey

    2014-01-01

    Segregation of genetic material occurs when chromosomes move to opposite spindle poles during mitosis. This movement depends on K-fibers, specialized microtubule (MT) bundles attached to the chromosomes? kinetochores. A long-standing assumption is that continuous K-fibers connect every kinetochore to a spindle pole and the force for chromosome movement is produced at the kinetochore and coupled with MT depolymerization. However, we found that chromosomes still maintained their position at the...

  20. Phylogenetic inferences of Atelinae (Platyrrhini) based on multi-directional chromosome painting in Brachyteles arachnoides, Ateles paniscus paniscus and Ateles b. marginatus

    OpenAIRE

    de Oliveira, EHC; Neusser, M.; Pieczarka, J. C.; Nagamachi, C.; Sbalqueiro, I. J.; Müller, Stefan

    2005-01-01

    We performed multi-directional chromosome painting in a comparative cytogenetic study of the three Atelinae species Brachyteles arachnoides, Ateles paniscus paniscus and Ateles belzebuth marginatus, in order to reconstruct phylogenetic relationships within this Platyrrhini subfamily. Comparative chromosome maps between these species were established by multi-color fluorescence in situ hybridization ( FISH) employing human, Saguinus oedipus and Lagothrix lagothricha chromosome-specific probes....

  1. Direct kinetochore-spindle pole connections are not required for chromosome segregation.

    Science.gov (United States)

    Sikirzhytski, Vitali; Magidson, Valentin; Steinman, Jonathan B; He, Jie; Le Berre, Maël; Tikhonenko, Irina; Ault, Jeffrey G; McEwen, Bruce F; Chen, James K; Sui, Haixin; Piel, Matthieu; Kapoor, Tarun M; Khodjakov, Alexey

    2014-07-21

    Segregation of genetic material occurs when chromosomes move to opposite spindle poles during mitosis. This movement depends on K-fibers, specialized microtubule (MT) bundles attached to the chromosomes' kinetochores. A long-standing assumption is that continuous K-fibers connect every kinetochore to a spindle pole and the force for chromosome movement is produced at the kinetochore and coupled with MT depolymerization. However, we found that chromosomes still maintained their position at the spindle equator during metaphase and segregated properly during anaphase when one of their K-fibers was severed near the kinetochore with a laser microbeam. We also found that, in normal fully assembled spindles, K-fibers of some chromosomes did not extend to the spindle pole. These K-fibers connected to adjacent K-fibers and/or nonkinetochore MTs. Poleward movement of chromosomes with short K-fibers was uncoupled from MT depolymerization at the kinetochore. Instead, these chromosomes moved by dynein-mediated transport of the entire K-fiber/kinetochore assembly. Thus, at least two distinct parallel mechanisms drive chromosome segregation in mammalian cells.

  2. Direct kinetochore–spindle pole connections are not required for chromosome segregation

    Science.gov (United States)

    Sikirzhytski, Vitali; Magidson, Valentin; Steinman, Jonathan B.; He, Jie; Le Berre, Maël; Tikhonenko, Irina; Ault, Jeffrey G.; McEwen, Bruce F.; Chen, James K.; Sui, Haixin; Piel, Matthieu; Kapoor, Tarun M.

    2014-01-01

    Segregation of genetic material occurs when chromosomes move to opposite spindle poles during mitosis. This movement depends on K-fibers, specialized microtubule (MT) bundles attached to the chromosomes′ kinetochores. A long-standing assumption is that continuous K-fibers connect every kinetochore to a spindle pole and the force for chromosome movement is produced at the kinetochore and coupled with MT depolymerization. However, we found that chromosomes still maintained their position at the spindle equator during metaphase and segregated properly during anaphase when one of their K-fibers was severed near the kinetochore with a laser microbeam. We also found that, in normal fully assembled spindles, K-fibers of some chromosomes did not extend to the spindle pole. These K-fibers connected to adjacent K-fibers and/or nonkinetochore MTs. Poleward movement of chromosomes with short K-fibers was uncoupled from MT depolymerization at the kinetochore. Instead, these chromosomes moved by dynein-mediated transport of the entire K-fiber/kinetochore assembly. Thus, at least two distinct parallel mechanisms drive chromosome segregation in mammalian cells. PMID:25023516

  3. Ku must load directly onto the chromosome end in order to mediate its telomeric functions.

    Directory of Open Access Journals (Sweden)

    Christopher R Lopez

    2011-08-01

    Full Text Available The Ku heterodimer associates with the Saccharomyces cerevisiae telomere, where it impacts several aspects of telomere structure and function. Although Ku avidly binds DNA ends via a preformed channel, its ability to associate with telomeres via this mechanism could be challenged by factors known to bind directly to the chromosome terminus. This has led to uncertainty as to whether Ku itself binds directly to telomeric ends and whether end association is crucial for Ku's telomeric functions. To address these questions, we constructed DNA end binding-defective Ku heterodimers by altering amino acid residues in Ku70 and Ku80 that were predicted to contact DNA. These mutants continued to associate with their known telomere-related partners, such as Sir4, a factor required for telomeric silencing, and TLC1, the RNA component of telomerase. Despite these interactions, we found that the Ku mutants had markedly reduced association with telomeric chromatin and null-like deficiencies for telomere end protection, length regulation, and silencing functions. In contrast to Ku null strains, the DNA end binding defective Ku mutants resulted in increased, rather than markedly decreased, imprecise end-joining proficiency at an induced double-strand break. This result further supports that it was the specific loss of Ku's telomere end binding that resulted in telomeric defects rather than global loss of Ku's functions. The extensive telomere defects observed in these mutants lead us to propose that Ku is an integral component of the terminal telomeric cap, where it promotes a specific architecture that is central to telomere function and maintenance.

  4. Ku must load directly onto the chromosome end in order to mediate its telomeric functions.

    Science.gov (United States)

    Lopez, Christopher R; Ribes-Zamora, Albert; Indiviglio, Sandra M; Williams, Christopher L; Haricharan, Svasti; Bertuch, Alison A

    2011-08-01

    The Ku heterodimer associates with the Saccharomyces cerevisiae telomere, where it impacts several aspects of telomere structure and function. Although Ku avidly binds DNA ends via a preformed channel, its ability to associate with telomeres via this mechanism could be challenged by factors known to bind directly to the chromosome terminus. This has led to uncertainty as to whether Ku itself binds directly to telomeric ends and whether end association is crucial for Ku's telomeric functions. To address these questions, we constructed DNA end binding-defective Ku heterodimers by altering amino acid residues in Ku70 and Ku80 that were predicted to contact DNA. These mutants continued to associate with their known telomere-related partners, such as Sir4, a factor required for telomeric silencing, and TLC1, the RNA component of telomerase. Despite these interactions, we found that the Ku mutants had markedly reduced association with telomeric chromatin and null-like deficiencies for telomere end protection, length regulation, and silencing functions. In contrast to Ku null strains, the DNA end binding defective Ku mutants resulted in increased, rather than markedly decreased, imprecise end-joining proficiency at an induced double-strand break. This result further supports that it was the specific loss of Ku's telomere end binding that resulted in telomeric defects rather than global loss of Ku's functions. The extensive telomere defects observed in these mutants lead us to propose that Ku is an integral component of the terminal telomeric cap, where it promotes a specific architecture that is central to telomere function and maintenance.

  5. Partial Duplication of Chromosome 8p

    African Journals Online (AJOL)

    rme

    The partial chromosome 8p duplication is a rare syndrome and is ... abnormality of maternal origin that ... second trimester by vaginal bleeding and ... echocardiography, brain CT scan and. MRI. Fig. 1:Conventional karyotype of case 3 showing.

  6. Trimester in Acquabox

    Directory of Open Access Journals (Sweden)

    Helena Eflerová

    2012-01-01

    Full Text Available Trimester in Acquabox (2010 is a live performance by Czech-British artist Helena Eflerová, which was originally exhibited at the Para Haus exhibition in São Paulo, Brazil. The audience is invited to view a narrative journey representing a metaphor of the foetus' development in the womb, and to share the experience with the performer, exploring an underwater weightless habitat. This collective experience of viewing such an intimate performance proposes questions around the personal experience of early childhood and motherhood. It questions the development of the foetus, its capacity of memory, its happy and traumatic experiences in the womb, and the after-effect on postnatal life. http://podcast.ulcc.ac.uk/accounts/BirkbeckCollege/mamsie/trimester_in_acquabox.mov

  7. Direct fluorescence in situ hybridization on human metaphase chromosomes using quantum dot-platinum labeled DNA probes

    Energy Technology Data Exchange (ETDEWEB)

    Hwang, Gyoyeon [Chemical Kinomics Research Center, Future Convergence Research Division, Korea Institute of Science and Technology, Hwarangno 14-gil 5, Seongbuk-gu, Seoul 136-791 (Korea, Republic of); Biological Chemistry, Korea University of Science and Technology, 217, Gajeong-ro, Yuseong-gu, Deajeon (Korea, Republic of); Lee, Hansol [Chemical Kinomics Research Center, Future Convergence Research Division, Korea Institute of Science and Technology, Hwarangno 14-gil 5, Seongbuk-gu, Seoul 136-791 (Korea, Republic of); Lee, Jiyeon, E-mail: jylee@kist.re.kr [Chemical Kinomics Research Center, Future Convergence Research Division, Korea Institute of Science and Technology, Hwarangno 14-gil 5, Seongbuk-gu, Seoul 136-791 (Korea, Republic of); Biological Chemistry, Korea University of Science and Technology, 217, Gajeong-ro, Yuseong-gu, Deajeon (Korea, Republic of)

    2015-11-13

    The telomere shortening in chromosomes implies the senescence, apoptosis, or oncogenic transformation of cells. Since detecting telomeres in aging and diseases like cancer, is important, the direct detection of telomeres has been a very useful biomarker. We propose a telomere detection method using a newly synthesized quantum dot (QD) based probe with oligonucleotide conjugation and direct fluorescence in situ hybridization (FISH). QD-oligonucleotides were prepared with metal coordination bonding based on platinum-guanine binding reported in our previous work. The QD-oligonucleotide conjugation method has an advantage where any sequence containing guanine at the end can be easily bound to the starting QD-Pt conjugate. A synthesized telomeric oligonucleotide was bound to the QD-Pt conjugate successfully and this probe hybridized specifically on the telomere of fabricated MV-4-11 and MOLT-4 chromosomes. Additionally, the QD-telomeric oligonucleotide probe successfully detected the telomeres on the CGH metaphase slide. Due to the excellent photostability and high quantum yield of QDs, the QD-oligonucleotide probe has high fluorescence intensity when compared to the organic dye-oligonucleotide probe. Our QD-oligonucleotide probe, conjugation method of this QD probe, and hybridization protocol with the chromosomes can be a useful tool for chromosome painting and FISH. - Highlights: • We prepared a probe linked between QD and telomeric oligonucleotide with platinum-guanine bonding. • Telomeres were detected by our new telomere probes successfully in three different human metaphase chromosomes. • QDPt-DNA probe has high fluorescence intensity in comparison with organic dye-DNA probe.

  8. Second trimester abortions in India.

    Science.gov (United States)

    Dalvie, Suchitra S

    2008-05-01

    This article gives an overview of what is known about second trimester abortions in India, including the reasons why women seek abortions in the second trimester, the influence of abortion law and policy, surgical and medical methods used, both safe and unsafe, availability of services, requirements for second trimester service delivery, and barriers women experience in accessing second trimester services. Based on personal experiences and personal communications from other doctors since 1993, when I began working as an abortion provider, the practical realities of second trimester abortion and case histories of women seeking second trimester abortion are also described. Recommendations include expanding the cadre of service providers to non-allopathic clinicians and trained nurses, introducing second trimester medical abortion into the public health system, replacing ethacridine lactate with mifepristone-misoprostol, values clarification among providers to challenge stigma and poor treatment of women seeking second trimester abortion, and raising awareness that abortion is legal in the second trimester and is mostly not requested for reasons of sex selection.

  9. Y-chromosome and mtDNA variation confirms independent domestications and directional hybridization in South American camelids.

    Science.gov (United States)

    Marín, J C; Romero, K; Rivera, R; Johnson, W E; González, B A

    2017-10-01

    Investigations of genetic diversity and domestication in South American camelids (SAC) have relied on autosomal microsatellite and maternally-inherited mitochondrial data. We present the first integrated analysis of domestic and wild SAC combining male and female sex-specific markers (male specific Y-chromosome and female-specific mtDNA sequence variation) to assess: (i) hypotheses about the origin of domestic camelids, (ii) directionality of introgression among domestic and/or wild taxa as evidence of hybridization and (iii) currently recognized subspecies patterns. Three male-specific Y-chromosome markers and control region sequences of mitochondrial DNA are studied here. Although no sequence variation was found in SRY and ZFY, there were seven variable sites in DBY generating five haplotypes on the Y-chromosome. The haplotype network showed clear separation between haplogroups of guanaco-llama and vicuña-alpaca, indicating two genetically distinct patrilineages with near absence of shared haplotypes between guanacos and vicuñas. Although we document some examples of directional hybridization, the patterns strongly support the hypothesis that llama (Lama glama) is derived from guanaco (Lama guanicoe) and the alpaca (Vicugna pacos) from vicuña (Vicugna vicugna). Within male guanacos we identified a haplogroup formed by three haplotypes with different geographical distributions, the northernmost of which (Peru and northern Chile) was also observed in llamas, supporting the commonly held hypothesis that llamas were domesticated from the northernmost populations of guanacos (L. g. cacilensis). Southern guanacos shared the other two haplotypes. A second haplogroup, consisting of two haplotypes, was mostly present in vicuñas and alpacas. However, Y-chromosome variation did not distinguish the two subspecies of vicuñas. © 2017 Stichting International Foundation for Animal Genetics.

  10. Phylogenetic inferences of Atelinae (Platyrrhini) based on multi-directional chromosome painting in Brachyteles arachnoides, Ateles paniscus paniscus and Ateles b. marginatus.

    Science.gov (United States)

    de Oliveira, E H C; Neusser, M; Pieczarka, J C; Nagamachi, C; Sbalqueiro, I J; Müller, S

    2005-01-01

    We performed multi-directional chromosome painting in a comparative cytogenetic study of the three Atelinae species Brachyteles arachnoides, Ateles paniscus paniscus and Ateles belzebuth marginatus, in order to reconstruct phylogenetic relationships within this Platyrrhini subfamily. Comparative chromosome maps between these species were established by multi-color fluorescence in situ hybridization (FISH) employing human, Saguinus oedipus and Lagothrix lagothricha chromosome-specific probes. The three species included in this study and four previously analyzed species from all four Atelinae genera were subjected to a phylogenetic analysis on the basis of a data matrix comprised of 82 discrete chromosome characters. The results confirmed that Atelinae represent a monophyletic clade with a putative ancestral karyotype of 2n = 62 chromosomes. Phylogenetic analysis revealed an evolutionary branching sequence [Alouatta [Brachyteles [Lagothrix and Ateles

  11. Prenatal Care: Second Trimester Visits

    Science.gov (United States)

    ... Pregnancy week by week During the second trimester, prenatal care includes routine lab tests and measurements of your ... too. By Mayo Clinic Staff The goal of prenatal care is to ensure that you and your baby ...

  12. Prenatal Care: Third Trimester Visits

    Science.gov (United States)

    ... Pregnancy week by week During the third trimester, prenatal care might include vaginal exams to check the baby's position. By Mayo Clinic Staff Prenatal care is an important part of a healthy pregnancy, ...

  13. The cost-effectiveness of directly observed highly-active antiretroviral therapy in the third trimester in HIV-infected pregnant women.

    Directory of Open Access Journals (Sweden)

    Caitlin J McCabe

    Full Text Available BACKGROUND: In HIV-infected pregnant women, viral suppression prevents mother-to-child HIV transmission. Directly observed highly-active antiretroviral therapy (HAART enhances virological suppression, and could prevent transmission. Our objective was to project the effectiveness and cost-effectiveness of directly observed administration of antiretroviral drugs in pregnancy. METHODS AND FINDINGS: A mathematical model was created to simulate cohorts of one million asymptomatic HIV-infected pregnant women on HAART, with women randomly assigned self-administered or directly observed antiretroviral therapy (DOT, or no HAART, in a series of Monte Carlo simulations. Our primary outcome was the quality-adjusted life expectancy in years (QALY of infants born to HIV-infected women, with the rates of Caesarean section and HIV-transmission after DOT use as intermediate outcomes. Both self-administered HAART and DOT were associated with decreased costs and increased life-expectancy relative to no HAART. The use of DOT was associated with a relative risk of HIV transmission of 0.39 relative to conventional HAART; was highly cost-effective in the cohort as a whole (cost-utility ratio $14,233 per QALY; and was cost-saving in women whose viral loads on self-administered HAART would have exceeded 1000 copies/ml. Results were stable in wide-ranging sensitivity analyses, with directly observed therapy cost-saving or highly cost-effective in almost all cases. CONCLUSIONS: Based on the best available data, programs that optimize adherence to HAART through direct observation in pregnancy have the potential to diminish mother-to-child HIV transmission in a highly cost-effective manner. Targeted use of DOT in pregnant women with high viral loads, who could otherwise receive self-administered HAART would be a cost-saving intervention. These projections should be tested with randomized clinical trials.

  14. The cost-effectiveness of directly observed highly-active antiretroviral therapy in the third trimester in HIV-infected pregnant women.

    Science.gov (United States)

    McCabe, Caitlin J; Goldie, Sue J; Fisman, David N

    2010-04-13

    In HIV-infected pregnant women, viral suppression prevents mother-to-child HIV transmission. Directly observed highly-active antiretroviral therapy (HAART) enhances virological suppression, and could prevent transmission. Our objective was to project the effectiveness and cost-effectiveness of directly observed administration of antiretroviral drugs in pregnancy. A mathematical model was created to simulate cohorts of one million asymptomatic HIV-infected pregnant women on HAART, with women randomly assigned self-administered or directly observed antiretroviral therapy (DOT), or no HAART, in a series of Monte Carlo simulations. Our primary outcome was the quality-adjusted life expectancy in years (QALY) of infants born to HIV-infected women, with the rates of Caesarean section and HIV-transmission after DOT use as intermediate outcomes. Both self-administered HAART and DOT were associated with decreased costs and increased life-expectancy relative to no HAART. The use of DOT was associated with a relative risk of HIV transmission of 0.39 relative to conventional HAART; was highly cost-effective in the cohort as a whole (cost-utility ratio $14,233 per QALY); and was cost-saving in women whose viral loads on self-administered HAART would have exceeded 1000 copies/ml. Results were stable in wide-ranging sensitivity analyses, with directly observed therapy cost-saving or highly cost-effective in almost all cases. Based on the best available data, programs that optimize adherence to HAART through direct observation in pregnancy have the potential to diminish mother-to-child HIV transmission in a highly cost-effective manner. Targeted use of DOT in pregnant women with high viral loads, who could otherwise receive self-administered HAART would be a cost-saving intervention. These projections should be tested with randomized clinical trials.

  15. Directional migration in the Hindu castes: inferences from mitochondrial, autosomal and Y-chromosomal data.

    Science.gov (United States)

    Wooding, Stephen; Ostler, Christopher; Prasad, B V Ravi; Watkins, W Scott; Sung, Sandy; Bamshad, Mike; Jorde, Lynn B

    2004-08-01

    Genetic, ethnographic, and historical evidence suggests that the Hindu castes have been highly endogamous for several thousand years and that, when movement between castes does occur, it typically consists of females joining castes of higher social status. However, little is known about migration rates in these populations or the extent to which migration occurs between caste groups of low, middle, and high social status. To investigate these aspects of migration, we analyzed the largest collection of genetic markers collected to date in Hindu caste populations. These data included 45 newly typed autosomal short tandem repeat polymorphisms (STRPs), 411 bp of mitochondrial DNA sequence, and 43 Y-chromosomal single-nucleotide polymorphisms that were assayed in more than 200 individuals of known caste status sampled in Andrah Pradesh, in South India. Application of recently developed likelihood-based analyses to this dataset enabled us to obtain genetically derived estimates of intercaste migration rates. STRPs indicated migration rates of 1-2% per generation between high-, middle-, and low-status caste groups. We also found support for the hypothesis that rates of gene flow differ between maternally and paternally inherited genes. Migration rates were substantially higher in maternally than in paternally inherited markers. In addition, while prevailing patterns of migration involved movement between castes of similar rank, paternally inherited markers in the low-status castes were most likely to move into high-status castes. Our findings support earlier evidence that the caste system has been a significant, long-term source of population structuring in South Indian Hindu populations, and that patterns of migration differ between males and females. Copyright 2004 Springer-Verlag

  16. First trimester diagnosis of sirenomelia.

    Science.gov (United States)

    Van Keirsbilck, J; Cannie, M; Robrechts, C; de Ravel, T; Dymarkowski, S; Van den Bosch, T; Van Schoubroeck, D

    2006-08-01

    We present a case of sirenomelia diagnosed on a first trimester ultrasound at 10 weeks' gestation and confirmed on 3D-ultrasound and MRI. The pregnancy was terminated at 15 gestational weeks and the post-mortem examination, including RX and microscopy, is presented. The sirenomelia sequence is a rare and lethal anomaly characterized by fusion, rotation, hypotrophy or atrophy of the lower limbs and severe urogenital abnormalities leading to oligohydramnios in the second half of pregnancy. Our case illustrates that the diagnosis of sirenomelia can be reliably made in the first trimester.

  17. First Trimester Listeria monocytogenes Septicemia

    NARCIS (Netherlands)

    Goddijn, M.; Schipper, H. G.; Spanjaard, L.; Wolf, H.

    1997-01-01

    Background: Little is known about fetal outcome after Listeria monocytogenes septicemia in the first trimester of pregnancy.Case: A primigravida with L. monocytogenes septicemia at 9 weeks gestation was treated with amoxicillin. At 40 weeks gestation a healthy female infant was born.Conclusion: This

  18. First trimester bleeding and maternal cardiovascular morbidity

    DEFF Research Database (Denmark)

    Lykke, Jacob A; Langhoff-Roos, Jens

    2012-01-01

    First trimester bleeding without miscarriage is a risk factor for complications later in the pregnancy, such as preterm delivery. Also, first trimester miscarriage has been linked to subsequent maternal ischemic heart disease. We investigated the link between maternal cardiovascular disease prior...... to and subsequent to first trimester bleeding without miscarriage....

  19. Pathogenicity Island Cross Talk Mediated by Recombination Directionality Factors Facilitates Excision from the Chromosome.

    Science.gov (United States)

    Carpenter, Megan R; Rozovsky, Sharon; Boyd, E Fidelma

    2015-12-14

    Pathogenicity islands (PAIs) are mobile integrated genetic elements (MIGEs) that contain a diverse range of virulence factors and are essential in the evolution of pathogenic bacteria. PAIs are widespread among bacteria and integrate into the host genome, commonly at a tRNA locus, via integrase-mediated site-specific recombination. The excision of PAIs is the first step in the horizontal transfer of these elements and is not well understood. In this study, we examined the role of recombination directionality factors (RDFs) and their relationship with integrases in the excision of two PAIs essential for Vibrio cholerae host colonization: Vibrio pathogenicity island 1 (VPI-1) and VPI-2. VPI-1 does not contain an RDF, which allowed us to answer the question of whether RDFs are an absolute requirement for excision. We found that an RDF was required for efficient excision of VPI-2 but not VPI-1 and that RDFs can induce excision of both islands. Expression data revealed that the RDFs act as transcriptional repressors to both VPI-1- and VPI-2-encoded integrases. We demonstrated that the RDFs Vibrio excision factor A (VefA) and VefB bind at the attachment sites (overlapping the int promoter region) of VPI-1 and VPI-2, thus supporting this mode of integrase repression. In addition, V. cholerae RDFs are promiscuous due to their dual functions of promoting excision of both VPI-1 and VPI-2 and acting as negative transcriptional regulators of the integrases. This is the first demonstration of cross talk between PAIs mediated via RDFs which reveals the complex interactions that occur between separately acquired MIGEs. Deciphering the mechanisms of pathogenicity island excision is necessary for understanding the evolution and spread of these elements to their nonpathogenic counterparts. Such mechanistic insight would assist in predicting the mobility of uncharacterized genetic elements. This study identified extensive RDF-mediated cross talk between two nonhomologous VPIs and

  20. [Rapid karyotyping in the 2nd and 3rd trimester: results and experiences].

    Science.gov (United States)

    Claussen, U; Voigt, H J; Ulmer, R; Beinder, E

    1995-01-01

    Rapid karyotyping in the second and third trimester is an increasing field of collaboration between women's hospitals and human genetics. Techniques available for rapid karyotyping are: 1. Amniocentesis; to obtain amniotic fluid cells for culturing and subsequent chromosome harvesting using the pipette method or the "in situ" technique. The average time between preparation of the amniotic fluid and the verbal notification of the analysed karyotype is 4.65 days for the pipette method and 5.97 days for the "in situ" technique. The major advantages are that amniocentesis can be handled safely by many gynaecologist, and the amniotic fluid samples can be posted easily to cytogenetic units familiar with rapid karyotyping. The main disadvantage is that currently only a few laboratories are able to handle the pipette method or the "in situ" technique for rapid karyotyping. 2. Fetal blood sampling (cordocentesis); and subsequent chromosome analysis on cultivated fetal lymphocytes leading to results within 2 to 4 days. The main advantage of this procedure is the reliability of the results obtained. Fetal blood sampling, however, is restricted to specialists; this may involve scheduling delays. 3. Placental biopsy; with subsequent direct preparation and long term culturing. In comparison to both other techniques this procedure is faster if direct preparation is used. Results can be obtained even on the same day. The main disadvantage, however, is the problem with the reliability of the direct preparation results. They must be confirmed by time-consuming long-term culturing. Data are presented on the likelihood of abnormal ultrasound findings being caused by chromosomal aberrations.(ABSTRACT TRUNCATED AT 250 WORDS)

  1. Characterization of the genomic organization of the region bordering the centromere of chromosome V of Podospora anserina by direct sequencing.

    Science.gov (United States)

    Silar, Philippe; Barreau, Christian; Debuchy, Robert; Kicka, Sébastien; Turcq, Béatrice; Sainsard-Chanet, Annie; Sellem, Carole H; Billault, Alain; Cattolico, Laurence; Duprat, Simone; Weissenbach, Jean

    2003-08-01

    A Podospora anserina BAC library of 4800 clones has been constructed in the vector pBHYG allowing direct selection in fungi. Screening of the BAC collection for centromeric sequences of chromosome V allowed the recovery of clones localized on either sides of the centromere, but no BAC clone was found to contain the centromere. Seven BAC clones containing 322,195 and 156,244bp from either sides of the centromeric region were sequenced and annotated. One 5S rRNA gene, 5 tRNA genes, and 163 putative coding sequences (CDS) were identified. Among these, only six CDS seem specific to P. anserina. The gene density in the centromeric region is approximately one gene every 2.8kb. Extrapolation of this gene density to the whole genome of P. anserina suggests that the genome contains about 11,000 genes. Synteny analyses between P. anserina and Neurospora crassa show that co-linearity extends at the most to a few genes, suggesting rapid genome rearrangements between these two species.

  2. Contrasting Patterns of Genomic Diversity Reveal Accelerated Genetic Drift but Reduced Directional Selection on X-Chromosome in Wild and Domestic Sheep Species.

    Science.gov (United States)

    Chen, Ze-Hui; Zhang, Min; Lv, Feng-Hua; Ren, Xue; Li, Wen-Rong; Liu, Ming-Jun; Nam, Kiwoong; Bruford, Michael W; Li, Meng-Hua

    2018-04-01

    Analyses of genomic diversity along the X chromosome and of its correlation with autosomal diversity can facilitate understanding of evolutionary forces in shaping sex-linked genomic architecture. Strong selective sweeps and accelerated genetic drift on the X-chromosome have been inferred in primates and other model species, but no such insight has yet been gained in domestic animals compared with their wild relatives. Here, we analyzed X-chromosome variability in a large ovine data set, including a BeadChip array for 943 ewes from the world's sheep populations and 110 whole genomes of wild and domestic sheep. Analyzing whole-genome sequences, we observed a substantially reduced X-to-autosome diversity ratio (∼0.6) compared with the value expected under a neutral model (0.75). In particular, one large X-linked segment (43.05-79.25 Mb) was found to show extremely low diversity, most likely due to a high density of coding genes, featuring highly conserved regions. In general, we observed higher nucleotide diversity on the autosomes, but a flat diversity gradient in X-linked segments, as a function of increasing distance from the nearest genes, leading to a decreased X: autosome (X/A) diversity ratio and contrasting to the positive correlation detected in primates and other model animals. Our evidence suggests that accelerated genetic drift but reduced directional selection on X chromosome, as well as sex-biased demographic events, explain low X-chromosome diversity in sheep species. The distinct patterns of X-linked and X/A diversity we observed between Middle Eastern and non-Middle Eastern sheep populations can be explained by multiple migrations, selection, and admixture during the domestic sheep's recent postdomestication demographic expansion, coupled with natural selection for adaptation to new environments. In addition, we identify important novel genes involved in abnormal behavioral phenotypes, metabolism, and immunity, under selection on the sheep X-chromosome.

  3. Spo0A regulates chromosome copy number during sporulation by directly binding to the origin of replication in Bacillus subtilis

    NARCIS (Netherlands)

    Boonstra, Mirjam; de Jong, Imke G.; Scholefield, Graham; Murray, Heath; Kuipers, Oscar P.; Veening, Jan-Willem

    When starved, Bacillus subtilis cells can enter the developmental programme of endospore formation by activation of the master transcriptional regulator Spo0A. Correct chromosome copy number is crucial for the production of mature and fully resistant spores. The production and maintenance of one

  4. Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis.

    Directory of Open Access Journals (Sweden)

    Paolo Guanciali Franchi

    Full Text Available From January 1st 2013 to August 31st 2016, 24408 pregnant women received the first trimester Combined test and contingently offered second trimester maternal serum screening to identify those women who would most benefit from invasive prenatal diagnosis (IPD. The screening was based on first trimester cut-offs of ≥1:30 (IPD indicated, 1:31 to 1:899 (second trimester screening indicated and ≤1:900 (no further action, and a second trimester cut-off of ≥1:250. From January 2014, analysis of fetal cells from peripheral maternal blood was also offered to women with positive screening results. For fetal Down syndrome, the overall detection rate was 96.8% for a false-positive rate of 2.8% resulting in an odds of being affected given a positive result (OAPR of 1:11, equivalent to a positive predictive value (PPV of 8.1%. Additional chromosome abnormalities were also identified resulting in an OAPR for any chromosome abnormality of 1:6.6 (PPV 11.9%. For a sub-set of cases with positive contingent test results, FISH analysis of circulating fetal cells in maternal circulation identified 7 abnormal and 39 as normal cases with 100% specificity and 100% sensitivity. We conclude that contingent screening using conventional Combined and second trimester screening tests is effective but can potentially be considerably enhanced through the addition of fetal cell analysis.

  5. Directed chromosomal integration and expression of porcine rotavirus outer capsid protein VP4 in Lactobacillus casei ATCC393.

    Science.gov (United States)

    Yin, Ji-Yuan; Guo, Chao-Qun; Wang, Zi; Yu, Mei-Ling; Gao, Shuai; Bukhari, Syed M; Tang, Li-Jie; Xu, Yi-Gang; Li, Yi-Jing

    2016-11-01

    Using two-step plasmid integration in the presence of 5-fluorouracil (5-FU), we developed a stable and markerless Lactobacillus casei strain for vaccine antigen expression. The upp of L. casei, which encodes uracil phosphoribosyltransferase (UPRTase), was used as a counterselection marker. We employed the Δupp isogenic mutant, which is resistant to 5-FU, as host and a temperature-sensitive suicide plasmid bearing upp expression cassette as counterselectable integration vector. Extrachromosomal expression of UPRTase complemented the mutated chromosomal upp allele and restored sensitivity to 5-FU. The resultant genotype can either be wild type or recombinant. The efficacy of the system was demonstrated by insertion and expression of porcine rotavirus (PRV) VP4. To improve VP4 expression, we analyzed L. casei transcriptional profiles and selected the constitutive highly expressed enolase gene (eno). The VP4 inserted after the eno termination codon were screened in the presence of 5-FU. Using genomic PCR amplification, we confirmed that VP4 was successfully integrated and stably inherited for at least 50 generations. Western blot demonstrated that VP4 was steadily expressed in medium with different carbohydrates. RT-qPCR and ELISA analysis showed that VP4 expression from the chromosomal location was similar to that achieved by a plasmid expression system. Applying the recombinant strain to immunize BALB/c mice via oral administration revealed that the VP4-expressing L. casei could induce both specific local and systemic humoral immune responses in mice. Overall, the improved gene replacement system represents an efficient method for chromosome recombination in L. casei and provides a safe tool for vaccine production.

  6. Diagnosis of sirenomelia in the first trimester.

    Science.gov (United States)

    Singh, Chanchal; Lodha, Pooja; Arora, Deepshikha; Prabhu Sharma, Akshatha; Kaul, Anita

    2014-01-01

    Sirenomelia or "mermaid syndrome" is a rare congenital abnormality with an incidence of 1 in 60,000. We report a case diagnosed in the first trimester using two-dimensional, three-dimensional, and color Doppler ultrasound. With increasing emphasis on early diagnosis of fetal abnormalities, this case highlights the importance of looking for anomalies in the first trimester itself. In fact, the diagnosis of sirenomelia should be easier in the first trimester as severe oligohydramnios in later gestation hampers vision. © 2013 Wiley Periodicals, Inc.

  7. Prenatal care in your second trimester

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/patientinstructions/000557.htm Prenatal care in your second trimester To use the sharing ... Gregory KD, Ramos DE, Jauniaux ERM. Preconception and prenatal care. In: Gabbe SG, Niebyl JR, Simpson JL, et ...

  8. Prenatal care in your third trimester

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/patientinstructions/000558.htm Prenatal care in your third trimester To use the sharing ... Gregory KD, Ramos DE, Jauniaux ERM. Preconception and prenatal care. In: Gabbe SG, Niebyl JR, Simpson JL, et ...

  9. Applications of Doppler in the first trimester

    International Nuclear Information System (INIS)

    Taylor, K.J.W.; Ramirez, B.; Grannum, P.

    1986-01-01

    Fifty patients have been studied by duplex Doppler US imaging in the first trimester. In normal gestations, luteal flow, characterized by a low pulsatility index (PI), can be seen in at least one ovary. Failure to detect luteal flow indicates a nonviable pregnancy. Six ectopic pregnancies demonstrated luteal flow and extrauterine heartbeat, detected by Doppler US. High PI values in the uterine artery are seen in the first trimester. Low PI values in the uterine arteries were found in patients with trophoblastic disease

  10. Modeling Chromosomes

    Science.gov (United States)

    Robertson, Carol

    2016-01-01

    Learning about chromosomes is standard fare in biology classrooms today. However, students may find it difficult to understand the relationships among the "genome", "chromosomes", "genes", a "gene locus", and "alleles". In the simple activity described in this article, which follows the 5E approach…

  11. Chromosomal Conditions

    Science.gov (United States)

    ... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Chromosomal conditions Chromosomal conditions ... Disorders See also: Genetic counseling , Your family health history Last reviewed: February, 2013 ... labor & premature birth The newborn intensive care unit (NICU) Birth defects & ...

  12. Is a third-trimester antibody screen in Rh+ women necessary?

    Science.gov (United States)

    Rothenberg, J M; Weirermiller, B; Dirig, K; Hurd, W W; Schilder, J; Golichowski, A

    1999-09-01

    To determine the need for routine third-trimester antibody screening in Rh+ women. An analytic case-control study. We identified Rh+ pregnant women who had received prenatal care and retrospectively analyzed their laboratory data. Patients were grouped into those with a positive third-trimester antibody screen (cases) and those with a negative third-trimester screen (controls). Because entry into a group was decided by the investigators, it could not be randomized. We reviewed the maternal medical records for antibody identification and final pregnancy outcome. We also reviewed the neonatal medical records for evidence of direct Coombs-positive cord blood, anemia, need for transfusion or phototherapy, other medical complications, and death. Using a computerized laboratory database from 2 teaching hospitals, we identified 10,581 obstetric patients who underwent routine first- and third-trimester antibody screening between 1988 and 1997. Of these, 1233 patients were Rh- and 9348 were Rh+. Among the Rh+ patients, 178 (1.9%) had 1 or more atypical antibodies at the first-trimester screen, and 53 (0.6%) had a positive third-trimester antibody screen despite a negative first-trimester screen. Although 6 of these 53 patients (0.06% of the study population) had clinically relevant antibodies for hemolytic disease of the new-born, no significant neonatal sequelae occurred among these 6 patients. Based on the patient and hospital records studied, a repeat third-trimester antibody screen for Rh+ patients is clinically and economically unjustified. Eliminating this laboratory test from clinical practice will not adversely affect pregnancy outcomes and will decrease the costs of prenatal care.

  13. First-trimester emergencies: a radiologist's perspective.

    Science.gov (United States)

    Phillips, Catherine H; Wortman, Jeremy R; Ginsburg, Elizabeth S; Sodickson, Aaron D; Doubilet, Peter M; Khurana, Bharti

    2018-02-01

    The purpose of this article is to help the practitioner ensure early diagnosis and response to emergencies in the first trimester by reviewing anatomy of the developing embryo, highlighting the sonographic appearance of common first-trimester emergencies, and discussing key management pathways for treating emergent cases. First-trimester fetal development is a stepwise process that can be challenging to evaluate in the emergency department (ED) setting. This is due, in part, to the complex anatomy of early pregnancy, subtlety of the sonographic findings, and the fact that fewer than half of patients with ectopic pregnancy present with the classic clinical findings of a positive pregnancy test, vaginal bleeding, pelvic pain, and tender adnexa. Ultrasound (US) has been the primary approach to diagnostic imaging of first-trimester emergencies, with magnetic resonance imaging (MRI) and computed tomography (CT) playing a supportive role in a small minority of cases. Familiarity with the sonographic findings diagnostic of and suspicious for early pregnancy failure, ectopic pregnancy, retained products of conception, gestational trophoblastic disease, failed intrauterine devices, and complications associated with assisted reproductive technology (ART) is critical for any emergency radiologist. Evaluation of first-trimester emergencies is challenging, and knowledge of key imaging findings and familiarity with management pathways are needed to ensure early diagnosis and response.

  14. Risk of chromosomal abnormalities in early spontaneous abortion after assisted reproductive technology: a meta-analysis.

    Directory of Open Access Journals (Sweden)

    Jun-Zhen Qin

    Full Text Available BACKGROUND: Studies on the risk of chromosomal abnormalities in early spontaneous abortion after assisted reproductive technology (ART are relatively controversial and insufficient. Thus, to obtain a more precise evaluation of the risk of embryonic chromosomal abnormalities in first-trimester miscarriage after ART, we performed a meta-analysis of all available case-control studies relating to the cytogenetic analysis of chromosomal abnormalities in first-trimester miscarriage after ART. METHODS: Literature search in the electronic databases MEDLINE, EMBASE, and Cochrane Central Register of Controlled Trials (CENTRAL based on the established strategy. Meta-regression, subgroup analysis, and Galbraith plots were conducted to explore the sources of heterogeneity. RESULTS: A total of 15 studies with 1,896 cases and 1,186 controls relevant to the risk of chromosomal abnormalities in first- trimester miscarriage after ART, and 8 studies with 601 cases and 602 controls evaluating frequency of chromosome anomaly for maternal age≥35 versus <35 were eligible for the meta-analysis. No statistical difference was found in risk of chromosomally abnormal miscarriage compared to natural conception and the different types of ART utilized, whereas the risk of fetal aneuploidy significantly increased with maternal age≥35 (OR 2.88, 95% CI: 1.74-4.77. CONCLUSIONS: ART treatment does not present an increased risk for chromosomal abnormalities occurring in a first trimester miscarriage, but incidence of fetal aneuploidy could increase significantly with advancing maternal age.

  15. Chromosome Territories

    OpenAIRE

    Cremer, Thomas; Cremer, Marion

    2010-01-01

    Chromosome territories (CTs) constitute a major feature of nuclear architecture. In a brief statement, the possible contribution of nuclear architecture studies to the field of epigenomics is considered, followed by a historical account of the CT concept and the final compelling experimental evidence of a territorial organization of chromosomes in all eukaryotes studied to date. Present knowledge of nonrandom CT arrangements, of the internal CT architecture, and of structural interactions wit...

  16. Amniotic fluid gamma-glutamyl transpeptidase activity during the second trimester.

    Science.gov (United States)

    Legge, M; Potter, H C

    1986-03-12

    Gamma glutamyl transpeptidase (GGTP) activity was determined in second trimester amniotic fluid taken from normal fetuses and those with fetal abnormalities. GGTP activity decreased with advancing gestation. Increasing meconium contamination correlated with an increase in GGTP activity as did increasing fetal blood contamination. Maternal blood did not affect GGTP activity. Anencephaly did not significantly alter the GGTP activity, however, fetuses with spina bifida had significantly lower activity. Klinefelters and Turners syndromes both had GGTP activity close to the 50th percentile, and two trisomy 21 fetuses had GGTP activity below the 40th percentile. Two trisomy 18 fetuses and two translocation Downs syndromes (46 XY, t (14;21) had GGTP activities considerably lower than the 20th percentile as did a fetus with gastroschisis. Second trimester amniotic fluid GGTP activity may provide an easy preliminary test to screen amniotic fluids for the possibility of certain fetal chromosome abnormalities.

  17. Dicentric chromosomes and γ-H2AX foci formation in lymphocytes of human blood samples exposed to a CT scanner: A direct comparison of dose response relationships

    International Nuclear Information System (INIS)

    Golfier, S.; Jost, G.; Pietsch, H.; Lengsfeld, P.; Eckardt-Schupp, F.; Schmid, E.; Voth, M.

    2009-01-01

    Experiments using the induction of dicentric chromosomes (dicentrics) as well as the γ-H2AX foci formation in lymphocytes of blood samples from a healthy donor were performed to directly evaluate the radiation sensitivity of both biological endpoints. For computed tomography scans at dose levels from 0.025 to 1 Gy, a linear-quadratic dose - response relationship for dicentrics and a linear dose - response relationship for γ-H2AX foci were obtained. The coefficients of the dose - response relationship for dicentrics are α = (3.76 ± 0.29) x 10 -2 Gy -1 and β = (5.54 ± 0.45) x 10 -2 Gy -2 , the linear coefficient for γ-H2AX foci is (7.38 ± 0.11) Gy -1 . The findings indicate that scoring of dicentrics as well as microscopic analysis of γ-H2AX foci are sensitive methods to quantify a radiation-induced biological damage at low doses. However, since γ-H2AX foci can be partially repaired within a few hours, biological damages present for days or even months, which constitute the clinically relevant endpoints, can only be quantified reliably by scoring of chromosome aberrations. Thus currently the quantification of dicentrics or reciprocal translocations remains the recommended method for estimating the effect of exposures to low dose levels of radiation ('biological dosimetry'). However, owing to the high radiation sensitivity of the γ-H2AX foci assay observed in the present study, further investigations on the effectiveness of low-linear energy transfer radiation qualities in producing γ-H2AX foci in lymphocytes from healthy donors should be performed. (authors)

  18. Chromosomal aberration

    International Nuclear Information System (INIS)

    Ishii, Yutaka

    1988-01-01

    Chromosomal aberrations are classified into two types, chromosome-type and chromatid-type. Chromosom-type aberrations include terminal deletion, dicentric, ring and interstitial deletion, and chromatid-type aberrations include achromatic lesion, chromatid deletion, isochromatid deletion and chromatid exchange. Clastogens which induce chromosomal aberration are divided into ''S-dependent'' agents and ''S-independent''. It might mean whether they can induce double strand breaks independent of the S phase or not. Double strand breaks may be the ultimate lesions to induce chromosomal aberrations. Caffeine added even in the G 2 phase appeared to modify the frequency of chromatid aberrations induced by X-rays and mitomycin C. Those might suggest that the G 2 phase involves in the chromatid aberration formation. The double strand breaks might be repaired by ''G 2 repair system'', the error of which might yield breakage types of chromatid aberrations and the by-pass of which might yield chromatid exchanges. Chromosome-type aberrations might be formed in the G 1 phase. (author)

  19. First and second trimester screening for fetal structural anomalies.

    Science.gov (United States)

    Edwards, Lindsay; Hui, Lisa

    2018-04-01

    Fetal structural anomalies are found in up to 3% of all pregnancies and ultrasound-based screening has been an integral part of routine prenatal care for decades. The prenatal detection of fetal anomalies allows for optimal perinatal management, providing expectant parents with opportunities for additional imaging, genetic testing, and the provision of information regarding prognosis and management options. Approximately one-half of all major structural anomalies can now be detected in the first trimester, including acrania/anencephaly, abdominal wall defects, holoprosencephaly and cystic hygromata. Due to the ongoing development of some organ systems however, some anomalies will not be evident until later in the pregnancy. To this extent, the second trimester anatomy is recommended by professional societies as the standard investigation for the detection of fetal structural anomalies. The reported detection rates of structural anomalies vary according to the organ system being examined, and are also dependent upon factors such as the equipment settings and sonographer experience. Technological advances over the past two decades continue to support the role of ultrasound as the primary imaging modality in pregnancy, and the safety of ultrasound for the developing fetus is well established. With increasing capabilities and experience, detailed examination of the central nervous system and cardiovascular system is possible, with dedicated examinations such as the fetal neurosonogram and the fetal echocardiogram now widely performed in tertiary centers. Magnetic resonance imaging (MRI) is well recognized for its role in the assessment of fetal brain anomalies; other potential indications for fetal MRI include lung volume measurement (in cases of congenital diaphragmatic hernia), and pre-surgical planning prior to fetal spina bifida repair. When a major structural abnormality is detected prenatally, genetic testing with chromosomal microarray is recommended over

  20. Exercise in Pregnancy: First Trimester Risks

    DEFF Research Database (Denmark)

    Hegaard, Hanne K.; Ersbøll, Anne S; Damm, Peter

    2016-01-01

    in the first trimester and the risk of miscarriage. A systematic review based on the EMBASE and PUBMED databases was conducted and 5 studies assessing the association between early pregnancy exercise and miscarriage were identified. Diverging findings were reported making no clear conclusion possible. New...

  1. First trimester prediction of maternal glycemic status.

    Science.gov (United States)

    Gabbay-Benziv, Rinat; Doyle, Lauren E; Blitzer, Miriam; Baschat, Ahmet A

    2015-05-01

    To predict gestational diabetes mellitus (GDM) or normoglycemic status using first trimester maternal characteristics. We used data from a prospective cohort study. First trimester maternal characteristics were compared between women with and without GDM. Association of these variables with sugar values at glucose challenge test (GCT) and subsequent GDM was tested to identify key parameters. A predictive algorithm for GDM was developed and receiver operating characteristics (ROC) statistics was used to derive the optimal risk score. We defined normoglycemic state, when GCT and all four sugar values at oral glucose tolerance test, whenever obtained, were normal. Using same statistical approach, we developed an algorithm to predict the normoglycemic state. Maternal age, race, prior GDM, first trimester BMI, and systolic blood pressure (SBP) were all significantly associated with GDM. Age, BMI, and SBP were also associated with GCT values. The logistic regression analysis constructed equation and the calculated risk score yielded sensitivity, specificity, positive predictive value, and negative predictive value of 85%, 62%, 13.8%, and 98.3% for a cut-off value of 0.042, respectively (ROC-AUC - area under the curve 0.819, CI - confidence interval 0.769-0.868). The model constructed for normoglycemia prediction demonstrated lower performance (ROC-AUC 0.707, CI 0.668-0.746). GDM prediction can be achieved during the first trimester encounter by integration of maternal characteristics and basic measurements while normoglycemic status prediction is less effective.

  2. Estrogen Levels in the three Trimesters

    African Journals Online (AJOL)

    estrogen levels in first, second and third trimesters of pregnant albino rats. MATERIALS AND METHODS. TEST SUBJECTS. 20 female albino rats and 6 male albino rats, with initial weight of 165-180g were purchase from the animal house of Department of Animal and. Environmental Biology , University of Benin,. Benin city ...

  3. First trimester growth restriction and uterine artery blood flow in the second trimester as predictors of adverse pregnancy outcome

    DEFF Research Database (Denmark)

    Pedersen, N G; Sperling, L; Wøjdemann, K R

    2013-01-01

    To investigate if fetuses with first trimester growth restriction have poorer perfusion of the placenta compared to a control group, and to investigate whether first trimester growth restriction in combination with poor flow in the uterine arteries in the second trimester can be used to predict...

  4. No. 360-Induced Abortion: Surgical Abortion and Second Trimester Medical Methods.

    Science.gov (United States)

    Costescu, Dustin; Guilbert, Édith

    2018-06-01

    This guideline reviews evidence relating to the provision of surgical induced abortion (IA) and second trimester medical abortion, including pre- and post-procedural care. Gynaecologists, family physicians, nurses, midwives, residents, and other health care providers who currently or intend to provide and/or teach IAs. Women with an unintended or abnormal first or second trimester pregnancy. PubMed, Medline, and the Cochrane Database were searched using the key words: first-trimester surgical abortion, second-trimester surgical abortion, second-trimester medical abortion, dilation and evacuation, induction abortion, feticide, cervical preparation, cervical dilation, abortion complications. Results were restricted to English or French systematic reviews, randomized controlled trials, clinical trials, and observational studies published from 1979 to July 2017. National and international clinical practice guidelines were consulted for review. Grey literature was not searched. The quality of evidence in this document was rated using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) methodology framework. The summary of findings is available upon request. IA is safe and effective. The benefits of IA outweigh the potential harms or costs. No new direct harms or costs identified with these guidelines. Copyright © 2018 Society of Obstetricians and Gynaecologists of Canada. All rights reserved.

  5. Program of complex rehabilitation of pregnant with alimentary-constitutional obesity in the third trimester.

    Directory of Open Access Journals (Sweden)

    Kovalenko T.N.

    2011-03-01

    Full Text Available In the article is presented the complex rehabilitation program for pregnant with alimentary-constitutional obesity in the third trimester. The program is directed on the decline of bodyweight, with the purpose of increase of scray-protective reactions of organism of pregnant and to the decline of obstetric traumatism in births. In an experiment took part 90 pregnant of the third trimester with obesity of I-III degree, middle genesial age. The developed and inculcated program foresaw the use of physical, psychological and medical rehabilitation.

  6. First trimester prenatal screening among women pregnant after IVF/ICSI

    DEFF Research Database (Denmark)

    Anne Cathrine, Gjerris; Tabor, Ann; Loft, Anne

    2012-01-01

    BACKGROUND Prenatal screening and diagnosis of chromosomal abnormalities especially Down's syndrome in IVF pregnancies are complicated by higher maternal age, a high multiple pregnancy rate, a high risk of a vanishing twin and an increased risk of chromosomal abnormalities, particularly in pregna......BACKGROUND Prenatal screening and diagnosis of chromosomal abnormalities especially Down's syndrome in IVF pregnancies are complicated by higher maternal age, a high multiple pregnancy rate, a high risk of a vanishing twin and an increased risk of chromosomal abnormalities, particularly...... in pregnancies after ICSI. The aim of the present systematic review was to evaluate the findings of first trimester screening for chromosomal abnormalities in IVF/ICSI singleton and twin pregnancies. METHODS A systematic MESH-term search in MEDLINE using PubMed and the Cochrane Library was performed until May...... 2011, with no earlier date limit. RESULTS The electronic search retrieved 562 citations, 96 of which were evaluated in detail and 57 were then excluded for not meeting the selection criteria. A total of 61 articles were finally selected for review. Our analysis of the data shows that, for IVF...

  7. 1st and 2nd Trimester Headsize in Fetuses with Congenital Heart Disease: A Cohort Study

    DEFF Research Database (Denmark)

    Lauridsen, Mette Høj; Petersen, Olav Bjørn; Vestergaard, Else Marie

    2014-01-01

    and screening for fetal malformations is carried out. Our cohort includes all fetuses in Western Denmark (2.9 million inhabitants) screened in between January 1st 2012 and December 31st 2013, diagnosed with any structural, non-syndromic congenital heart disease either during pregnancy or up to 6 months after......Background: Congenital heart disease (CHD) is associated with neuro-developmental disorders. The influence of CHD on the brain may be present in the fetus. We hypothesize that fetal cerebral growth is impaired as early as 2nd trimester. Aim: To investigate if fetal cerebral growth is associated...... birth. Results 276 fetuses with CHD were identified. 114 (41%) were genetically screened primarily by chromosomal microarray analysis (n=82). Fetuses with identified chromosomal abnormalities were excluded as were multiple gestation fetuses and fetuses with major extra cardiac malformations. Data from...

  8. Performance of third-trimester ultrasound for prediction of small-for-gestational-age neonates and evaluation of contingency screening policies.

    Science.gov (United States)

    Souka, A P; Papastefanou, I; Pilalis, A; Michalitsi, V; Kassanos, D

    2012-05-01

    To assess the performance of third-trimester fetal biometry and fetal Doppler studies for the prediction of small-for-gestational-age (SGA) neonates, and to explore contingency strategies using a first-trimester prediction model based on maternal and fetal parameters and third-trimester ultrasound. This was an observational cross-sectional study of uncomplicated singleton pregnancies. Risk assessment for chromosomal abnormality was carried out in 4702 pregnancies using a combination of ultrasound markers (fetal nuchal translucency thickness (NT) and nasal bone assessment) and biochemistry (free beta-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein-A (PAPP-A)) at 11 to 13 + 6 weeks. Maternal demographic characteristics and method of conception were recorded. Third-trimester (30-34 weeks) fetal biometry (biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC) and femur length (FL)) and umbilical artery (UA) and middle cerebral artery Doppler studies were performed routinely in a subgroup (n = 2310). Reference ranges for birth weight were constructed using the cohort of 4702 women, and neonates were classified as small (SGA, ≤ 5th centile) or appropriate (AGA) for gestational age. First-trimester, third-trimester and integrated first- and third-trimester prediction models for SGA were constructed using regression analysis and three different contingency strategies of rescanning in the third trimester were investigated. According to the areas under the receiver-operating characteristics curves (AUCs), AC (AUC = 0.85) and ultrasound-estimated fetal weight (EFW, AUC = 0.87) were equally good predictors of SGA. The model was marginally improved by the addition of UA Doppler, smoking status and first-trimester indices (free β-hCG and PAPP-A multiples of the median) (combined model, AUC = 0.88), but the difference was not statistically significant. A contingency strategy of rescanning 50% of the population in the

  9. Leptin in first trimester pregnancy serum

    DEFF Research Database (Denmark)

    Hedley, Paula; Pihl, Kasper; Krebs, Lone

    2009-01-01

    and its relation to fetal growth disturbances were examined in this study. The study is a case-control study with 36 small-for-gestational-age (SGA) (pregnancies and 108 appropriate-for-gestational-age (AGA) (> or =5th percentile) pregnancies. The groups were matched by maternal age...... maternal BMI. There was no significant difference in maternal serum leptin concentrations between SGA and AGA pregnancies. In conclusion, SGA pregnancies are not associated with a lower maternal serum leptin concentration in first trimester. The maternal serum leptin concentration is largely determined...

  10. Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection

    DEFF Research Database (Denmark)

    Nielsen, Jørgen E; Koefoed, Pernille; Kjaergaard, Susanne

    2004-01-01

    OBJECTIVE: To present a report on prenatal diagnosis using direct SPG4 gene analysis in a family with autosomal dominant hereditary spastic paraplegia (AD-HSP). METHODS: Genetic linkage and haplotype analysis were previously carried out with chromosome 2p markers. DNA was obtained from affected...... individuals, the affected father, the mother, and fetal DNA from an ongoing pregnancy by chorionic villus sampling (CVS) in the first trimester. The spastin gene (SPG4) was completely sequenced. RESULTS: A novel 832insGdelAA frameshift mutation, predicted to cause loss of functional protein, was identified...... in the affected father and in the fetal DNA. CONCLUSIONS: This is the first report on direct prenatal diagnosis of chromosome 2p-linked AD-HSP (SPG4). In addition, we report a novel SPG4-combined small insertion/deletion mutation in exon 5, which may be the first SPG4 mutational hot spot....

  11. First Trimester Noninvasive Prenatal Diagnosis: A Computational Intelligence Approach.

    Science.gov (United States)

    Neocleous, Andreas C; Nicolaides, Kypros H; Schizas, Christos N

    2016-09-01

    The objective of this study is to examine the potential value of using machine learning techniques such as artificial neural network (ANN) schemes for the noninvasive estimation, at 11-13 weeks of gestation, the risk for euploidy, trisomy 21 (T21), and other chromosomal aneuploidies (O.C.A.), from suitable sonographic, biochemical markers, and other relevant data. A database(1) (1)The dataset can become available for academic purposes by communicating directly with the authors.

  12. First-trimester vaginal bleeding and complications later in pregnancy

    DEFF Research Database (Denmark)

    Lykke, Jacob Alexander; Dideriksen, Katrine Lehrmann; Lidegaard, Øjvind

    2010-01-01

    To evaluate the association of first-trimester bleeding without miscarriage and complications later in the first pregnancy as well as in the next pregnancy.......To evaluate the association of first-trimester bleeding without miscarriage and complications later in the first pregnancy as well as in the next pregnancy....

  13. The Determinants and Outcomes of Second Trimester Abortion at ...

    African Journals Online (AJOL)

    Background: Mid trimester abortion constitutes 10-15% of all induced abortions worldwide and accounts for the majority of complications. In Africa, studies demonstrating the proportion of second trimester abortions are few. However to appropriately intervene with a view to reducing the morbidity and mortality due to mid ...

  14. First-Trimester Exposure to Methylphenidate

    DEFF Research Database (Denmark)

    Pottegård, Anton; Hallas, Jesper; Andersen, Jon T

    2014-01-01

    conducted this study to estimate the risk of major congenital malformations following first-trimester in utero exposure to methylphenidate. METHOD: Data from 2005 to 2012 were extracted from the Danish National Patient Register, the Danish National Prescription Registry, the Medical Birth Registry...... subjects with respect to maternal age, smoking status, body mass index, length of education, calendar year of completion of pregnancy, and concomitant use of antipsychotics, antidepressants, anxiolytics, and nonsteroidal anti-inflammatory drugs. RESULTS: We included 222 exposed and 2,220 unexposed...... pregnancies in the analysis. There was no statistically significant increase in major malformations (point prevalence ratio = 0.8; 95% CI, 0.3-1.8) or cardiac malformations (point prevalence ratio = 0.9; 95% CI, 0.2-3.0). Sensitivity analyses using different definitions of exposure or previous users...

  15. From equator to pole: splitting chromosomes in mitosis and meiosis

    Science.gov (United States)

    Duro, Eris

    2015-01-01

    During eukaryotic cell division, chromosomes must be precisely partitioned to daughter cells. This relies on a mechanism to move chromosomes in defined directions within the parental cell. While sister chromatids are segregated from one another in mitosis and meiosis II, specific adaptations enable the segregation of homologous chromosomes during meiosis I to reduce ploidy for gamete production. Many of the factors that drive these directed chromosome movements are known, and their molecular mechanism has started to be uncovered. Here we review the mechanisms of eukaryotic chromosome segregation, with a particular emphasis on the modifications that ensure the segregation of homologous chromosomes during meiosis I. PMID:25593304

  16. Mitotic chromosome structure

    International Nuclear Information System (INIS)

    Heermann, Dieter W.

    2012-01-01

    Mounting evidence is compiling linking the physical organizational structure of chromosomes and the nuclear structure to biological function. At the base of the physical organizational structure of both is the concept of loop formation. This implies that physical proximity within chromosomes is provided for otherwise distal genomic regions and thus hierarchically organizing the chromosomes. Together with entropy many experimental observations can be explained with these two concepts. Among the observations that can be explained are the measured physical extent of the chromosomes, their shape, mechanical behavior, the segregation into territories (chromosomal and territories within chromosomes), the results from chromosome conformation capture experiments, as well as linking gene expression to structural organization.

  17. Mitotic chromosome structure

    Energy Technology Data Exchange (ETDEWEB)

    Heermann, Dieter W., E-mail: heermann@tphys.uni-heidelberg.de

    2012-07-15

    Mounting evidence is compiling linking the physical organizational structure of chromosomes and the nuclear structure to biological function. At the base of the physical organizational structure of both is the concept of loop formation. This implies that physical proximity within chromosomes is provided for otherwise distal genomic regions and thus hierarchically organizing the chromosomes. Together with entropy many experimental observations can be explained with these two concepts. Among the observations that can be explained are the measured physical extent of the chromosomes, their shape, mechanical behavior, the segregation into territories (chromosomal and territories within chromosomes), the results from chromosome conformation capture experiments, as well as linking gene expression to structural organization.

  18. A re-assessment of biochemical marker distributions in T21 affected and unaffected twin pregnancies in the first trimester

    DEFF Research Database (Denmark)

    Madsen, Helen Nordahl; Ball, Susan; Wright, Dave

    2011-01-01

    OBJECTIVE: To estimate the difference between levels of the two biochemical markers pregnancy-associated plasma protein-A (PAPP-A) and maternal serum free β-human chorionic gonadotropin (free β-hCG) in twin pregnancies relative to singleton pregnancies and establish an improved screening procedure...... of the biochemical markers were calculated. Detection rates and false-positive rates were estimated for screening tests incorporating nuchal translucency and maternal age, with and without biochemistry. RESULTS: Medians for the two biochemical markers for monochorionic and dichorionic twins in unaffected pregnancies......-trimester screening for chromosomal abnormalities in twins to a level comparable with that in singleton pregnancies....

  19. Radiation-induced chromosomal instability

    International Nuclear Information System (INIS)

    Ritter, S.

    1999-01-01

    Recent studies on radiation-induced chromosomal instability in the progeny of exposed mammalian cells were briefly described as well as other related studies. For the analysis of chromosomal damage in clones, cells were seeded directly after exposure in cell well-dish to form single cell clones and post-irradiation chromosome aberrations were scored. Both exposure to isoeffective doses of X-ray or 270 MeV/u C-ions (13 keV/μm) increased the number of clones with abnormal karyotype and the increase was similar for X-ray and for C-ions. Meanwhile, in the progeny of cells for mass cultures, there was no indication of a delayed expression of chromosomal damage up to 40 population doublings after the exposure. A high number of aberrant cells were only observed directly after exposure to 10.7 MeV/u O-ions, i.e. in the first cycle cells and decreased with subsequent cell divisions. The reason for these differences in the radiation-induced chromosomal instability between clonal isolates and mass culture has not been clarified. Recent studies indicated that genomic instability occurs at a high frequency in the progeny of cells irradiated with both sparsely and densely ionizing radiation. Such genomic instability is thought likely to increase the risk of carcinogenesis, but more data are required for a well understanding of the health risks resulting from radiation-induced delayed instability. (M.N.)

  20. A prospective self-controlled study of fertility after second-trimester prostaglandin-induced abortion.

    Science.gov (United States)

    MacKenzie, I Z; Fry, A

    1988-05-01

    One hundred forty women whose pregnancies were terminated in the second trimester with prostaglandins because of suspected fetal disease have been prospectively followed to assess their subsequent fertility. In six instances difficulties had been experienced in conceiving the pregnancy that was terminated. Since abortion 104 women have conceived, 97% within 24 months of abortion but in five instances after some delay. Only one woman had not succeeded in conceiving a wished-for pregnancy. There were no apparent differences in abortion management between those women readily conceiving and those in whom there was some delay, although termination because of chromosomal reasons or anatomic abnormalities was less commonly followed by another pregnancy as compared with those terminated for rubella or other viral infections. Reduced fertility after a late prostaglandin-induced abortion thus appears to be very infrequent.

  1. Correlation between prenatal diagnosis by ultrasound and fetal autopsy findings in second-trimester abortions

    DEFF Research Database (Denmark)

    Hauerberg, Laura; Skibsted, Lillian; Graem, Niels

    2012-01-01

    We evaluated the correlation between prenatal diagnosis by ultrasound and autopsy findings, based on 52 second-trimester pregnancies terminated due to fetal malformations or chromosome aberrations diagnosed at a gestational age of 12-25 weeks. In 24 pregnancies, there was full agreement between...... ultrasound and autopsy. In 23 fetuses, the main diagnosis was confirmed and additional or more specific findings were observed on autopsy. In five fetuses, there were considerable differences. Discrepancies between ultrasound and autopsy findings were mainly anomalies undetectable by ultrasound and thus...... expected; however, about one-third of the discrepancies were not expected, representing findings that were 'missed' at ultrasound. The main ultrasound diagnoses were confirmed in the majority of the pregnancies, but the additional information obtained at autopsy in more than half of the fetuses clearly...

  2. Using knowledge management to improve learning experience of first-trimester students

    Directory of Open Access Journals (Sweden)

    Nelson K. Y. Leung

    2015-06-01

    Full Text Available To address the lack of insights into the engagement of tertiary students to manage knowledge at a course level, a knowledge management approach is proposed to allow students to interact with lecturers inside and outside a large lecture hall to create, disseminate, use and evaluate knowledge. The proposed approach was applied to an undergraduate business computing related course conducted at the offshore campus of an Australian university in the third trimester of 2012. The proposed KM approach was evaluated using quantitative analysis. The findings show that the majority of the students agreed that the computerized tool (Facebook could enhance their learning experience by allowing students to ask for, share, discuss, and extend knowledge. In particular, the KM approach provided additional channels and platforms for the first-trimester students who were passive and preferred not to seek help from lecturers directly for cultural reasons.

  3. [A cohort study on association between the first trimester phthalates exposure and fasting blood glucose level in the third trimester].

    Science.gov (United States)

    Zhang, Y W; Gao, H; Huang, K; Xu, Y Y; Sheng, J; Tao, F B

    2017-03-10

    Objective: To examine the association between the phthalate exposure in the first trimester and fasting blood glucose level or gestational diabetes mellitus (GDM) in the third trimester in pregnant women. Methods: A total of 3 474 pregnant women, receiving their prenatal examination in Ma' anshan Maternal and Child Health-Care Hospital of Anhui province, were selected from May 2013 to September 2014. Questionnaires were used to collect the information about their socio-demographic characteristics, clinical characteristics and GDM diagnostic results in the first, second and third trimesters. Urine samples and fasting venous blood samples were collected. Concentrations of 7 kinds of phthalate metabolites in urine samples were detected by solid phase extraction-high performance liquid chromatography-tandem mass spectrometry (SPE-HPLC-MS/MS), and multiple linear regression model was used for statistical analyses. Logistic regression analysis on the risk of the first trimester phthalate exposure for GDM in the third trimester was conducted. Results: The prevalence of GDM in this study was 12.8%, monomethyl phthalate (MMP), monoethyl phthalate (MEP), mono-n-butyl phthalate (MBP), monobenzyl phthalate (MBzP) and mono-(2-ethyl-5-oxohexyl) phthalate (MEHHP) exposure levels were positively correlated with the fasting blood glucose level in the third trimester ( P levels were negatively correlated with the fasting blood glucose level in the third trimester ( P blood glucose level in both normal group and GDM group. However, MMP, MEP, MBP, MBzP, MEHP and MEOHP exposure levels had influences on the third trimester fasting blood glucose level in normal group but not in GDM group. MMP and MBP exposure might increase the risk of GDM, but MEOHP exposure might reduce the risk of GDM. Conclusion: The phthalate exposure in the first trimester might be associated with the fasting blood glucose level in the third trimester, MMP, MEP, MBP, MBzP and MEHHP concentrations were positively

  4. The experience of amnioinfusion for oligohydramnios during the early second trimester.

    Science.gov (United States)

    Hsu, Tian-Lun; Hsu, Te-Yao; Tsai, Ching-Chang; Ou, Chia-Yu

    2007-12-01

    In the past, oligohydramnios occurring early during the secondary trimester was the reason to terminate the pregnancy because of poor prognosis. Even though amnioinfusion has been reported for improving the prognosis of the infant, it is still not frequently used because of unfavorable results. We present our experience with amnioinfusion for oligohydramnios with or without preterm premature rupture of membranes. A retrospective study was performed from July 2005 to December 2006 in our hospital. Amnioinfusions were performed in pregnant women found with oligohydramnios during their second trimesters. Chromosomal studies were recommended and performed under informed consent. Level II sonography was performed after each amnioinfusion. Magnetic resonance imaging was arranged for those with suggested urinary tract malformations. Seventeen cases were included in our study. No mother was exposed to drugs that have been associated with oligohydramnios. The women received one to six procedures of amnioinfusion separately with a total of 28 procedures. Only one procedure failed. No chromosomal anomalies were found. Fetal anomalies were found after amnioinfusion in five cases. One woman had preterm delivery within 1 week after amnioinfusion. In the four cases of oligohydramnios with rupture of membranes, one case had a healthy full-term baby delivered. In the 13 cases of oligohydramnios without rupture of membranes, there were two preterm infants delivered before 34 weeks of gestation, including pulmonary hypoplasia in one neonate, and three healthy babies delivered after 35 weeks of gestation. Amnioinfusion performed the first time might provide some benefits for those with early-onset oligohydramnios, such as to provide confirmation of rupture of membranes, detailed sonography examination and further counseling. We would recommend that this procedure be considered once for these cases.

  5. First Trimester Fetal Gender Assignment by Ultrasound

    Directory of Open Access Journals (Sweden)

    Sabahattin Altunyurt

    2010-03-01

    Full Text Available Objective: To investigate the efficiency of genital tubercule angle on detecting fetal gender in first trimester by ultrasonography. Material-Method: Fetal sex assignment by ultrasound was carried out in 172 pregnancies at 11-13+6 weeks between 2007 June and 2007 December. Gestational age was determined by the measurement of crown-rump length (CRL. The ultrasound predictions were compared with actual sex at birth. Mid-sagittal planes of a section of the fetal genital tubercle were performed to identify the gender. Results: 155 of 172 patients’ data were achieved. The overall success rate was 92.3 % in sonographic assignment of fetal sex. The correct assignment rate in female fetuses was significantly higher than males (95.9 % - 88.8 % [p=0,001]. The correct identification of fetal sex improved with advancing gestational age from 89.3 % between 11-11+6 weeks, 92.5 % between 12-12+6 weeks and 93.4 % between 13-13+6 weeks (p=0,96. Conclusion: The fetal sex assignment by ultrasonography between 11-13+6 weeks had high success rate. The sensitivity of fetal sex assignment was not affected with fetus position and gestational age.

  6. The Application of First‑Trimester Volumetry in Predicting Pregnancy ...

    African Journals Online (AJOL)

    Rawal MY, Malhotra N. Ultrasonography in Early Intrauterine pregnancy. ... Leung KY, Ma Teresa, Lau BY, Chen M. First trimester ultrasound volumetry: .... Ghosh A, Tang MH, Lam YH, Fung E, Chan V. Ultrasound measurement of placental ...

  7. Oxidative Stress Parameters as Markers of the different Trimesters in ...

    African Journals Online (AJOL)

    ADOWIE PERE

    functions accompanied by a high metabolic demand and elevated requirements for ... trimester (18.2mmole/ml) compared to the non-pregnant controls ... Maternal hormonal changes ... this increased energy requirement during pregnancy,.

  8. Intraspecific chromosome variability

    Directory of Open Access Journals (Sweden)

    N Dubinin

    2010-12-01

    Full Text Available (Editorial preface. The publication is presented in order to remind us of one of dramatic pages of the history of genetics. It re-opens for the contemporary reader a comprehensive work marking the priority change from plant cytogenetics to animal cytogenetics led by wide population studies which were conducted on Drosophila polytene chromosomes. The year of the publication (1937 became the point of irretrievable branching between the directions of Old World and New World genetics connected with the problems of chromosome variability and its significance for the evolution of the species. The famous book of T. Dobzhansky (1937 was published by Columbia University in the US under the title “Genetics and the origin of species”, and in the shadow of this American ‘skybuilding’ all other works grew dim. It is remarkable that both Dobzhansky and Dubinin come to similar conclusions about the role of chromosomes in speciation. This is not surprising given that they both might be considered as representatives of the Russian genetic school, by their birth and education. Interestingly, Dobzhansky had never referred to the full paper of Dubinin et al. (1937, though a previous short communication in Nature (1936 was included together with all former papers on the related subject. In full, the volume of the original publication printed in the Biological Journal in Moscow comprised 47 pages, in that number 41 pages of the Russian text accompanied by 16 Figs, a table and reference list, and, above all, 6 pages of the English summary. This final part in English is now reproduced in the authors’ version with the only addition being the reference list in the originally printed form.

  9. Fetal chromosome analysis: screening for chromosome disease?

    DEFF Research Database (Denmark)

    Philip, J; Tabor, Ann; Bang, J

    1983-01-01

    The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group...... A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were compared...... to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25-34 years of age, in whom all heritable diseases were excluded (group C). The risk of unbalanced...

  10. Chromosome painting in plants.

    NARCIS (Netherlands)

    Schubert, I.; Fransz, P.F.; Fuchs, J.; Jong, de J.H.

    2001-01-01

    The current 'state-of-art' as to chromosome painting in plants is reviewed. We define different situations described as painting so far: i) Genomic in situ hybridisation (GISH) with total genomic DNA to distinguish alien chromosomes on the basis of divergent dispersed repeats, ii) 'Chromosomal in

  11. The Barley Chromosome 5 Linkage Map

    DEFF Research Database (Denmark)

    Jensen, J.; Jørgensen, Jørgen Helms

    1975-01-01

    The distances between nine loci on barley chromosome 5 have been studied in five two-point tests, three three-point tests, and one four-point test. Our previous chromosome 5 linkage map, which contained eleven loci mapped from literature data (Jensen and Jørgensen 1975), is extended with four loci......-position is fixed on the map by a locus (necl), which has a good marker gene located centrally in the linkage group. The positions of the other loci are their distances in centimorgans from the 0-position; loci in the direction of the short chromosome arm are assigned positive values and those...

  12. Dysfunctional MreB inhibits chromosome segregation in Escherichia coli

    DEFF Research Database (Denmark)

    Kruse, Thomas; Møller-Jensen, Jakob; Løbner-Olesen, Anders

    2003-01-01

    The mechanism of prokaryotic chromosome segregation is not known. MreB, an actin homolog, is a shape-determining factor in rod-shaped prokaryotic cells. Using immunofluorescence microscopy we found that MreB of Escherichia coli formed helical filaments located beneath the cell surface. Flow...... cytometric and cytological analyses indicated that MreB-depleted cells segregated their chromosomes in pairs, consistent with chromosome cohesion. Overexpression of wild-type MreB inhibited cell division but did not perturb chromosome segregation. Overexpression of mutant forms of MreB inhibited cell...... that MreB filaments participate in directional chromosome movement and segregation....

  13. Variation of Ultrasound Findings in the First Trimester Examination of Recurrent Cases With Trisomy 21

    Science.gov (United States)

    Daniilidis, Aggelos; Balaouras, Dimitrios; Chitzios, Dimitrios; Balaouras, Georgios; Capilna, Mihai; Asimakopoulos, Efstratios

    2015-01-01

    Increased nuchal translucency (NT) is present in about 50% of cases with trisomy 21. Very often the nuchal edema evolves in hydrops fetalis until the second trimester. Furthermore, a small amount of cases with a normal NT and trisomy 21 exhibit anatomical anomalies. We present a case of a 21-year-old woman, nulliparous, with a history of one termination of pregnancy and a smoking quitter. The prenatal control was negative for TORCH. During the first trimester scan on the 13th week, the NT was found 2.7 mm, the ductus venosus Doppler was normal, and the nasal bone was present. Hydrops fetalis was present though, and the parents were advised for chorionic villus sampling (CVS), but they opted for termination of pregnancy. The molecular control by QF-PCR showed normal karyotype for 13 and 18, a male fetus, but non-dysjunction trisomy 21 was present. Parental karyotype was advised, but they refused to perform it. One year later, the couple had another pregnancy. On the 12th week scan, the NT was found 1.0 mm, the ductus venosus Doppler was normal, and the nasal bone was present, but encephalocele was also found, and the parents consented again for termination of pregnancy. The new molecular control showed the same results. This time parental karyotype was performed. The father had a normal one, whereas the mother showed reversed p11 and q13 zones in chromosome 2. Genetical consulting and prenatal cytological control was advised in before next pregnancy. PMID:25883716

  14. An efficient protocol for the detection of chromosomal abnormalities in spontaneous miscarriages or foetal deaths.

    Science.gov (United States)

    Dória, Sofia; Carvalho, Filipa; Ramalho, Carla; Lima, Vera; Francisco, Tânia; Machado, Ana Paula; Brandão, Otília; Sousa, Mário; Matias, Alexandra; Barros, Alberto

    2009-12-01

    Characterization of chromosomal abnormalities in 232 spontaneous miscarriages or foetal deaths using both classical and molecular cytogenetics. Chromosomal abnormalities are responsible for 40-50% of all early pregnancy losses. Conventional cytogenetics is associated with 10-40% of culture failure. Comparative genomic hybridization (CGH) is a DNA-based technique that screens chromosome imbalances in the whole genome and may overcome this problem, although additional methods are required to distinguish between different ploidies, mosaicisms and maternal cell contamination. For a full characterization of chromosomal aberrations in 232 spontaneous miscarriages or foetal deaths we applied a sequential protocol that uses conventional cytogenetics, plus CGH and touch fluorescence in situ hybridization (Touch FISH). Successful karyotyping was obtained in 173/232 (74.6%) of the cases, 66/173 (38.2%) of which had an abnormal chromosomal complement. CGH and Touch FISH analyses revealed another 19 abnormal cases in the 63 failures of culture. Overall there were 85/233 (36.6%) cases with an abnormal chromosomal complement, with examples from all three trimesters. Comparing cases, with or without chromosomal abnormalities, no statistical differences were found between women with one or recurrent miscarriages. On the contrary, significant differences were found comparing mean maternal ages or mean gestational ages, in cases with or without chromosomes abnormalities. Adopting this sequential protocol, chromosomal complement information was available even in cases with culture failure.

  15. Platelet Count in First Trimester of Pregnancy as a Predictor of Perinatal Outcome

    Directory of Open Access Journals (Sweden)

    Santiago Garcia-Tizon Larroca

    2017-02-01

    CONCLUSIONS: Maternal and pregnancy factors can poorly predict relevant changes in PLT at the first trimester of gestation. PLT at first trimester of pregnancy might predict adverse perinatal outcome in combination with other markers.

  16. Chromosomal Evolution in Chiroptera.

    Science.gov (United States)

    Sotero-Caio, Cibele G; Baker, Robert J; Volleth, Marianne

    2017-10-13

    Chiroptera is the second largest order among mammals, with over 1300 species in 21 extant families. The group is extremely diverse in several aspects of its natural history, including dietary strategies, ecology, behavior and morphology. Bat genomes show ample chromosome diversity (from 2n = 14 to 62). As with other mammalian orders, Chiroptera is characterized by clades with low, moderate and extreme chromosomal change. In this article, we will discuss trends of karyotypic evolution within distinct bat lineages (especially Phyllostomidae, Hipposideridae and Rhinolophidae), focusing on two perspectives: evolution of genome architecture, modes of chromosomal evolution, and the use of chromosome data to resolve taxonomic problems.

  17. Chromosomal Evolution in Chiroptera

    Directory of Open Access Journals (Sweden)

    Cibele G. Sotero-Caio

    2017-10-01

    Full Text Available Chiroptera is the second largest order among mammals, with over 1300 species in 21 extant families. The group is extremely diverse in several aspects of its natural history, including dietary strategies, ecology, behavior and morphology. Bat genomes show ample chromosome diversity (from 2n = 14 to 62. As with other mammalian orders, Chiroptera is characterized by clades with low, moderate and extreme chromosomal change. In this article, we will discuss trends of karyotypic evolution within distinct bat lineages (especially Phyllostomidae, Hipposideridae and Rhinolophidae, focusing on two perspectives: evolution of genome architecture, modes of chromosomal evolution, and the use of chromosome data to resolve taxonomic problems.

  18. First-trimester combined screening for Down syndrome

    DEFF Research Database (Denmark)

    Pihl, Kasper; Sørensen, Tina Lindvig; Nørgaard Pedersen, Bent

    2008-01-01

    OBJECTIVE: To establish the relationship between the first-trimester screening markers [pregnancy-associated plasma protein A (PAPP-A), free human chorionic gonadotrophin-beta (beta-hCG), nuchal translucency (NT)], the Down syndrome (DS) risk estimate, and the adverse outcomes such as low birth w...

  19. Second trimester cardiac diagnosis : screening standards and outcomes

    NARCIS (Netherlands)

    Clur, Sally-Ann B.; Bilardo, Caterina M.

    2014-01-01

    Second trimester screening for congenital heart defects occurs during the routine 18-20 weeks' anomaly scan in many countries. Most congenital heart defects can be prenatally detected by experts in foetal echocardiography working in tertiary centres with high-risk pregnancies. Many studies, however,

  20. Second trimester cardiac diagnosis: screening standards and outcomes

    NARCIS (Netherlands)

    Clur, Sally-Ann B.; Bilardo, Caterina M.

    2014-01-01

    Second trimester screening for congenital heart defects occurs during the routine 18-20 weeks' anomaly scan in many countries. Most congenital heart defects can be prenatally detected by experts in foetal echocardiography working in tertiary centres with high-risk pregnancies. Many studies, however,

  1. Co-variables in first trimester maternal serum screening

    NARCIS (Netherlands)

    de Graaf, I. M.; Cuckle, H. S.; Pajkrt, E.; Leschot, N. J.; Bleker, O. P.; van Lith, J. M.

    2000-01-01

    The objective of this study was to determined the influence of maternal weight, maternal smoking habits, gravidity, parity and fetal gender on the level of maternal serum marker used in first trimester screening for Down syndrome. A total of 2449 singleton unaffected pregnancies from two centres

  2. Taste preferences of west African dwarf ewes at different trimester ...

    African Journals Online (AJOL)

    Taste preferences of pregnant West African dwarf (WAD) ewes were studied at different trimester periods using the multiple choice preference test method. A total of twelve WAD ewes of average body weight of 15.96 ± 4.17 kg, divided into two groups (A and B) were used for the study. Six pregnant ewes (in group A) served ...

  3. Fetal Ascites and Second Trimester Maternal Hepatitis C Virus Infection

    Directory of Open Access Journals (Sweden)

    Pei-Ying Ling

    2006-09-01

    Conclusion: Second trimester perinatal HCV infection with possible CMV coinfection associated with fetal ascites is a rare event. Fetal therapy resulting in a successful outcome has not been reported. Prompt fetal therapy with paracentesis in this case led to the delivery of a healthy term liveborn baby with anti-HCV seropositivity.

  4. First trimester biochemistry in pregnancies conceived using assisted reproduction techniques

    DEFF Research Database (Denmark)

    Tabor, Ann; Ekelund, Charlotte; Nørgaard, Pernille

    Objective: To examine the effects of method of conception on first trimester PAPP-A and free beta-hCG and the dependency of gestational age at the time of sampling on these effects Methods: Data on more than 100 000 spontaneously conceived and on 6 859 pregnancies conceived by assisted reproducti...

  5. Electrolytes concentration patterns in the three trimesters of pregnancy

    African Journals Online (AJOL)

    The physiologic adaptations of the pregnant woman involve the renal, cardiovascular and other systems of the body. This study aimed at evaluating electrolyte concentrations in the three trimesters of pregnancy. Blood samples were collected by aseptic techniques and the concentrations of electrolytes were determined ...

  6. Maternal weight gain in second and third trimesters and their ...

    African Journals Online (AJOL)

    A prospective study was carried out to determine the relationship between weight gain in the second and third trimesters with the corresponding birth weights in Morogoro, Tanzania. A total of 270 pregnant women who gave birth to singleton deliveries and their consecutive newborns were randomly selected from among ...

  7. THE RELATIONSHIP BETWEEN HEMOGLOBIN AND HEMATOCRIT IN THE FIRST TRIMESTER OF PREGNANCY AND THE INCIDENCE OF PREECLAMPSIA

    OpenAIRE

    Fateme parooei , Mahmood Anbari, Morteza Salarzaei *

    2017-01-01

    Introduction: Pregnancy and childbirth are among the most important events in every woman’s life. Although pregnancy is not a disease and is a physiological and natural process, it may be followed with complications, and pregnancy cares can prevent the incidence of many problems. Methods: In this review article, the databases Medline, Cochrane, Science Direct, and Google Scholar were thoroughly searched to identify the relationship between hemoglobin and hematocrit in the first trimester of p...

  8. Chromosomes aberations and enviromental factors

    Directory of Open Access Journals (Sweden)

    Marković Srđan Z.

    2017-01-01

    Full Text Available Explanation the topic: Changes in genetic material can lead to aberrant cell in the direction of disorders of cellular regulation, malignant transformation, cell death, or if the adjustment was made at the level of the reproductive cells, to genetic changes in some of the consequent off spring. The topic position in scientific/professional public: Breaking of chromosomes can occur spontaneously or can be induced. Chromatid/chromosome breakings can be induced by different environmental factors: chemicals, biological clastogenic agents, accidentally or intentionally. Conclusions: The authors suggest: - making conditions for strong respect of environmental regulations; - to use higher plants for the early detection of environmental mutagens; - create and orderly update National radionuclide database.

  9. Discrimination of chromosome by autoradiography

    International Nuclear Information System (INIS)

    Masubuchi, Masanori

    1975-01-01

    This paper describes discrimination of chromosome by autoradiography. In this method, the difference in DNA synthetic phase between each chromosome was used as a standard, and the used chromosome was in metaphase, as morphological characteristics were markedly in this phase. Cell cycle and autoradiography with 3 H-thymidine were also examined. In order to discriminate chromosome by autoradiography, it was effective to utilize the labelled pattern in late DNA synthetic phase, where asynchronous replication of chromosome appeared most obviously. DNA synthesis in chromosome was examined in each DNA synthetic phase by culturing the chromosome after the treatment with 3 H-thymidine and altering the time to prepare chromosome specimen. Discrimination of chromosome in plants and animals by autoradiography was also mentioned. It was noticed as a structural and functional discrimination of chromosome to observe amino acid uptake into chromosome protein and to utilize the difference in labelled pattern between the sites of chromosome. (K. Serizawa)

  10. Plantar pressure and foot pain in the last trimester of pregnancy.

    Science.gov (United States)

    Karadag-Saygi, Evrim; Unlu-Ozkan, Feyza; Basgul, Alin

    2010-02-01

    Back and foot pain are common complaints during pregnancy. Progression of symptoms is seen especially in the third trimester as the center of gravity (COP) is altered due to weight gain. The aim of the study was to evaluate plantar pressure changes and postural balance differences of pregnant women. Thirty-five last trimester pregnant women with complaints of foot pain were included. The control group consisted of 35 non-pregnant women who were age and body mass index (BMI) matched volunteers. All selected cases were overweight. Foot pain in pregnancy was measured by Visual analogue scale (VAS). Percentages of pressure on forefoot and hindfoot were measured using static pedobarography and peak pressures at forefoot, midfoot and hindfoot were measured using dynamic pedobarography. As a measurement of balance, COP sway length and width were also analyzed. Compared to overweight individuals, pregnant patients had higher forefoot pressure on the right side with standing and walking. Also, significant increases in contact times under the forefoot and longer floor contact times were found. VAS scores were correlated with forefoot contact times during walking. Although the sway length from COP was higher than controls, no significant correlation was found in sway length and weight gain. These data suggest that forefoot pressures increase in the last trimester of pregnancy during standing and walking. There is prominent increased postural sway in anterior-posterior direction in this period. We believe that based on the observed pressure changes, foot pain in pregnancy due to changes in body mass and distribution may be relieved by exercise and shoewear modifications.

  11. Fetal chromosome analysis

    DEFF Research Database (Denmark)

    Philip, J; Tabor, A; Bang, J

    1983-01-01

    The aim of the study was to investigate the rationale of the current indications for fetal chromosome analysis. 5372 women had 5423 amniocentesis performed, this group constituting a consecutive sample at the chromosome laboratory, Rigshospitalet, Copenhagen from March 1973 to September 1980 (Group...... A + B). Pregnant women 35 years of age, women who previously had a chromosomally abnormal child, families with translocation carriers or other heritable chromosomal disease, families where the father was 50 years or more and women in families with a history of Down's syndrome (group A), were compared...... to women having amniocentesis, although considered not to have any increased risk of fetal chromosome abnormality (1390 pregnancies, group B). They were also compared with 750 consecutive pregnancies in women 25-34 years of age, in whom all heritable diseases were excluded (group C). The risk of unbalanced...

  12. The Upturned Superior Mesenteric Artery Sign for First-Trimester Detection of Congenital Diaphragmatic Hernia and Omphalocele.

    Science.gov (United States)

    Lakshmy, Ravi Selvaraj; Agnees, Joy; Rose, Nity

    2017-03-01

    The aim of this study was to follow the course of the superior mesenteric artery (SMA) in first-trimester fetuses to predict the location of the small bowel. Its abnormal course aids in early detection of congenital diaphragmatic hernia (CDH) and assessment of the contents of omphalocele. The SMA can be easily identified in a sagittal section of the fetus by using color Doppler sonography at the 11- to 14-week scan, and normally, it has a downward course caudally to supply the intestines. The course of the SMA points to the location of the bowel. We report a series of 7 cases detected in first trimester with an abnormal course of the SMA, 3 of which had CDH and 4 of which had omphalocele. In CDH, the intestines herniate into the thoracic cavity; hence, the SMA tends to have an upward course toward the thorax. In 4 cases of omphalocele, the SMA follows the exteriorized bowel into the base of the umbilical cord. Second-trimester sonography for detection of congenital malformations is a standardized protocol, but a careful anatomic survey at the 11- to 14-week scan is often rewarding. When there is a suspicion of an intrathoracic mass or a mediastinal shift, the upturned course of SMA serves as a valuable sign in confirmation of CDH. Chromosomal abnormalities are often reported in cases of omphalocele containing small bowel only, and the upward course of the SMA toward the base of the cord helps in its early prenatal diagnosis, which facilitates early genetic assessment in these fetuses. © 2017 by the American Institute of Ultrasound in Medicine.

  13. Why Do Sex Chromosomes Stop Recombining?

    Science.gov (United States)

    Ponnikas, Suvi; Sigeman, Hanna; Abbott, Jessica K; Hansson, Bengt

    2018-04-28

    It is commonly assumed that sex chromosomes evolve recombination suppression because selection favours linkage between sex-determining and sexually antagonistic genes. However, although the role of sexual antagonism during sex chromosome evolution has attained strong support from theory, experimental and observational evidence is rare or equivocal. Here, we highlight alternative, often neglected, hypotheses for recombination suppression on sex chromosomes, which invoke meiotic drive, heterozygote advantage, and genetic drift, respectively. We contrast the hypotheses, the situations when they are likely to be of importance, and outline why it is surprisingly difficult to test them. Lastly, we discuss future research directions (including modelling, population genomics, comparative approaches, and experiments) to disentangle the different hypotheses of sex chromosome evolution. Copyright © 2018 Elsevier Ltd. All rights reserved.

  14. Basic heart examination: feasibility study of first-trimester systematic simplified fetal echocardiography.

    Science.gov (United States)

    Quarello, E; Lafouge, A; Fries, N; Salomon, L J

    2017-02-01

    First-trimester fetal cardiac screening examinations in low-risk populations should not have to meet the specifications required for high-risk populations. Our aim was to evaluate a simplified fetal echocardiographic ('basic heart') examination for early detection of severe congenital heart defects in a low-risk population. This was a first-trimester national 'flash study', performed over a 2-week period. Each observer was requested to perform simplified echocardiography without modifying the time and methods deemed necessary for the routine first-trimester ultrasound examination, in fetuses with crown-rump length between 45 and 84 mm. This basic heart assessment used targeted cross-sections of the four-chamber view (4CV) and of the three vessels and trachea (3VT) view, using color and/or directional power Doppler. All examinations were then reviewed offline and scored for quality by a qualified expert. Sixty observers performed a total of 597 first-trimester ultrasound examinations, each performing an average of 10 (range, 1-26) procedures. Examinations were conducted transabdominally (79%; 472/597), transvaginally (3%; 17/597) or both (18%; 108/597). In 8% (45/597) of cases, the fetal back was anterior, in 18% (108/597) it was on the left side, in 63% (377/597) it was posterior and in 11% (67/597) it was on the right side. It became clear during scoring by the expert that, unlike the Herman quality score for nuchal translucency measurement, it was difficult to assess the quality of these images without taking into account normality of the heart itself. Analysis of scores showed that the 4CV was obtained successfully and was deemed normal in 86% (512/597) of the patients, in 7% (41/597) it was deemed technically infeasible and in 7% (44/597) it was deemed feasible but atypical, which may have been due to the presence of an abnormality or to poor quality of the image. The 3VT view was obtained successfully and was normal in 79% (472/597) of the patients, in 13

  15. Validation of second trimester miscarriages and spontaneous deliveries

    DEFF Research Database (Denmark)

    Sundtoft, Iben Blaabjerg; Sneider, Kirstine; Christiansen, Ole Bjarne

    2015-01-01

    OBJECTIVE: To validate the diagnosis of second trimester miscarriages/deliveries (16+0 weeks to 27+6 weeks of gestation) recorded as miscarriages in the Danish National Patient Registry or spontaneous deliveries in the Danish Medical Birth Registry, and asses the validity of risk factors, pregnancy...... information and calculated positive predictive values of the registry diagnoses stratified by type of registry, as well as sensitivity, specificity, positive predictive value, and kappa coefficients of risk factors, pregnancy complications, and cerclage. RESULTS: Miscarriage/spontaneous delivery in the second......-based information on pregnancy complications need to be improved. We recommend that all pregnancies ending spontaneously beyond the first trimester are included in the national birth registry and described by appropriate variables....

  16. Medical management of first trimester miscarriage according to ultrasonographic findings

    DEFF Research Database (Denmark)

    Vejborg, Thomas; Nilas, Lisbeth; Rørbye, Christina

    2007-01-01

    BACKGROUND: The efficacy of medical treatment of first trimester miscarriages may depend on the regimen used, the definition of success, clinical symptoms, and, possibly, on the ultrasonographic findings. Our primary aim was to assess if a single dose of misoprostol could reduce the number of sur...... of pregnancy failure, time of assessment, and the criteria for success.......BACKGROUND: The efficacy of medical treatment of first trimester miscarriages may depend on the regimen used, the definition of success, clinical symptoms, and, possibly, on the ultrasonographic findings. Our primary aim was to assess if a single dose of misoprostol could reduce the number...... ultrasonography after either 1, 2 or 3 days. Treatment was successful if a complete abortion was diagnosed at follow-up. The women were divided into 4 ultrasonographically-defined groups: missed abortion with a crown rump length (CRL)>or=6 mm (Group A1) or CRL

  17. Early Biochemical Screening for Fetal Aneuploidy in the First Trimester

    DEFF Research Database (Denmark)

    Tørring, Niels

    2013-01-01

    Background Screening for fetal trisomy 21 in the first trimester includes analysis of the serological markers pregnancy-associated plasma protein A (PAPP-A) and free beta human choriogonadotropin (free βhCG). With the recent launch of the PAPP-A free βhCG and assays on the Roche Cobas and Elecsys...... assays showed slopes of 0.94 and 0.95 and Pearson’s correlation of r = 0.981 and r = 0.987 respectively. Similar comparison to AutoDELFIA PerkinElmer Perkin gave slopes of 0,83 (free βhCG) and 1.20 (PAPP-A). With a cut off at 1:300 the overall sensitivity of the first trimester screening including nuchal...

  18. Gender impact on first trimester markers in Down syndrome screening

    DEFF Research Database (Denmark)

    Larsen, Severin Olesen; Wøjdemann, Karen R; Shalmi, Anne-Cathrine

    2002-01-01

    The influence of fetal gender on the level in the first trimester of the serological markers alpha-fetoprotein (AFP), pregnancy-associated plasma protein-A (PAPP-A) and free beta human chorionic gonadotropin (betahCG) and on nuchal translucency is described for 2637 singleton pregnancies with nor......The influence of fetal gender on the level in the first trimester of the serological markers alpha-fetoprotein (AFP), pregnancy-associated plasma protein-A (PAPP-A) and free beta human chorionic gonadotropin (betahCG) and on nuchal translucency is described for 2637 singleton pregnancies...... with normal outcome. Mean log MoM values for pregnancies with female and male fetuses were calculated using regression of log marker values on gestational age expressed as crown rump length and on maternal weight. A pronounced gender impact was found for free betahCG, being 16% higher for female than for male...

  19. CHROMOSOMES OF WOODY SPECIES

    Directory of Open Access Journals (Sweden)

    Julio R Daviña

    2000-01-01

    Full Text Available Chromosome numbers of nine subtropical woody species collected in Argentina and Paraguay are reported. The counts tor Coutarea hexandra (2n=52, Inga vera subsp. affinis 2n=26 (Fabaceae and Chorisia speciosa 2n=86 (Bombacaceae are reported for the first time. The chromosome number given for Inga semialata 2n=52 is a new cytotype different from the previously reported. Somatic chromosome numbers of the other taxa studied are: Sesbania punicea 2n=12, S. virgata 2n=12 and Pilocarpus pennatifolius 2n=44 from Argentina

  20. Conjoined twins detected in the first trimester: A review

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2011-12-01

    Full Text Available Conjoined twinning occurs in 1 in 100 sets of monozygotic twins, 1 in 50,000 gestations or 1 in 250,000 live births. With the advent of ultrasound technology, prenatal diagnosis of conjoined twins is possible. This article provides a comprehensive review of conjoined twins detected in the first trimester including fetal gender, maternal age, parity, types of fusion, related ultrasound abnormalities, perinatal outcome and association with assisted reproduction.

  1. HELLP kan ses i andet trimester ved antifosfolipidsyndrom

    DEFF Research Database (Denmark)

    Madsen, Bjørn Stæhr; Havelund, Troels

    2011-01-01

    The syndrome of haemolysis, elevated liver enzymes and low platelets (HELLP) is estimated to occur in 0.01-0.2% of pregnancies and is considered a severe form of preeclampsia. It is associated with considerable risk of maternal and foetal mortality. HELLP syndrome associated with antiphospholipid...... syndrome is known to occur early in the pregnancy. We report a case of severe HELLP syndrome complicated by multiple hepatic infarctions and portal vein thrombosis in the second trimester in a patient with antiphospholipid syndrome....

  2. What is my Baby Like? Representations Concerning the Baby in the Third Trimester of Pregnancy

    Directory of Open Access Journals (Sweden)

    Marta Pedreira

    2015-11-01

    Full Text Available AimTo investigate if during the third trimester of pregnancy fantasies emerge in the baby representations based on the information that pregnant women have on their real babies through ultrasound techniques.MethodA qualitative, descriptive and exploratory research based on a sample of 30 pregnant Portuguese women, whose average age is 32 years old, was developed. A socio-demographic questionnaire and a semi-directive interview entitled "Interview of Maternal Representations During Pregnancy – Revised Version" (IRMAG-R, Ammaniti & Tambelli, 2010 were employed.ResultsBaby representations are immersed in a fantasy dimension, which means that the imaginary baby is quite present in this phase of pregnancy. Pregnant women mainly attribute psychological characteristics to the babies, rather than physical characteristics. Regardless of the type of characteristics analysed, the preference for these characteristics emerges based on their wishes. Secondly, characteristics of the parents may also emerge. Fetal movements and information from ultrasound have no significant influence on the characterization of the baby.ConclusionDespite the development of ultrasound techniques, the imaginary baby defines parents representations about the baby on the third trimester of pregnancy. Consequently, a new understanding of how pregnant women experience the transition to the postnatal phase has to be considered.

  3. Pregnancy outcomes after first-trimester vaginitis drug therapy.

    Science.gov (United States)

    Rosa, F W; Baum, C; Shaw, M

    1987-05-01

    Prescription frequencies in the first trimester were compared for miconazole, clotrimazole, nystatin, candicidin, aminacrine compounds, and metronidazole before deliveries involving congenital anomalies versus those not linked to congenital anomalies. Prescriptions before spontaneous abortions were compared with those in the first trimester of deliveries and with those before legal abortions. No statistically significant association was observed with any of these agents for the overall frequency of birth defects or for specific birth defects analyzed (cardiovascular defects, oral clefts, and spina bifida). Two hundred fifty miconazole exposures among 4264 spontaneous abortions, compared with 2236 in the first trimester of 55,736 deliveries, provided an estimated relative risk of 1.4 (95% confidence limits 1.2-1.5). One hundred twelve treatments with clotrimazole among the spontaneous abortions, compared with 1086 among the deliveries, provided a relative risk of 1.4 (95% confidence limits 1.1-1.6). In contrast, large numbers of exposures to nystatin and aminacrine compounds did not show this association, suggesting that spontaneous abortions are caused by the imidazole agents miconazole and clotrimazole rather than the condition being treated. Because many associations were examined without previous hypotheses, and because the data were inadequate to show an elevated risk for clotrimazole when comparing spontaneous with legal abortion exposures, these findings are considered to be a signal for further studies rather than definitive in themselves.

  4. Nuchal translucency and first trimester risk assessment: a systematic review.

    Science.gov (United States)

    Sheppard, Celeste; Platt, Lawrence D

    2007-06-01

    First-trimester risk assessment for fetal aneuploidy using nuchal translucency (NT) measurement is rapidly gaining popularity in the United States. In combination with maternal serum markers in the first trimester, the screening performance is exceptionally good, with detection rates of more than 80% at a screen positive rate of 5%. Recently, the method has been validated for screening for Down syndrome and other aneuploidies in multicenter trials in the United States and elsewhere. Compliance with established criteria for measurement of the NT is essential to achieve uniform reliability and high screening test sensitivity. There is an international consensus about the importance of specific training in the NT examination, conformity to standards of NT measurement, and regular audit for quality assurance. In the United States, the Nuchal Translucency Quality Review program has been developed to administer credentialing and quality review for registered practitioners. The Nuchal Translucency Quality Review credentials signify the proficiency of the sonographer or sonologist in NT measurement and participation in a regular quality assurance audit. We encourage accreditation of clinical sites offering first-trimester risk assessment to ensure the highest quality care.

  5. First-trimester screening in pregnancies conceived by assisted reproductive technology: significance of gestational dating by oocyte retrieval or sonographic measurement of crown-rump length

    DEFF Research Database (Denmark)

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

    2008-01-01

    OBJECTIVES: To evaluate, in pregnancies conceived by assisted reproductive technology, whether determination of gestational age (GA) by date of oocyte aspiration (DOA) or crown-rump length (CRL) at first-trimester screening influences the distribution of serum and sonographic markers or the perfo......OBJECTIVES: To evaluate, in pregnancies conceived by assisted reproductive technology, whether determination of gestational age (GA) by date of oocyte aspiration (DOA) or crown-rump length (CRL) at first-trimester screening influences the distribution of serum and sonographic markers...... or the performance of first-trimester screening for chromosomal abnormalities. METHODS: GA was calculated using either DOA or CRL at blood sampling and nuchal translucency thickness (NT) measurement in 729 singleton pregnancies conceived by in-vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI......). Weight-corrected log multiples of the median (MoM) marker distributions specific for IVF pregnancy were established using multiple log regression and compared for DOA- and CRL-based GA calculation. RESULTS: GA determined by CRL was significantly larger, albeit slightly, than was GA determined by DOA...

  6. Chromosomal abnormalities and autism

    Directory of Open Access Journals (Sweden)

    Farida El-Baz

    2016-01-01

    Conclusion: Chromosomal abnormalities were not detected in the studied autistic children, and so the relation between the genetics and autism still needs further work up with different study methods and techniques.

  7. Chromosome condensation and segmentation

    International Nuclear Information System (INIS)

    Viegas-Pequignot, E.M.

    1981-01-01

    Some aspects of chromosome condensation in mammalians -humans especially- were studied by means of cytogenetic techniques of chromosome banding. Two further approaches were adopted: a study of normal condensation as early as prophase, and an analysis of chromosome segmentation induced by physical (temperature and γ-rays) or chemical agents (base analogues, antibiotics, ...) in order to show out the factors liable to affect condensation. Here 'segmentation' means an abnormal chromosome condensation appearing systematically and being reproducible. The study of normal condensation was made possible by the development of a technique based on cell synchronization by thymidine and giving prophasic and prometaphasic cells. Besides, the possibility of inducing R-banding segmentations on these cells by BrdU (5-bromodeoxyuridine) allowed a much finer analysis of karyotypes. Another technique was developed using 5-ACR (5-azacytidine), it allowed to induce a segmentation similar to the one obtained using BrdU and identify heterochromatic areas rich in G-C bases pairs [fr

  8. Chromosomal Evolution in Chiroptera

    OpenAIRE

    Sotero-Caio, Cibele G.; Baker, Robert J.; Volleth, Marianne

    2017-01-01

    Chiroptera is the second largest order among mammals, with over 1300 species in 21 extant families. The group is extremely diverse in several aspects of its natural history, including dietary strategies, ecology, behavior and morphology. Bat genomes show ample chromosome diversity (from 2n = 14 to 62). As with other mammalian orders, Chiroptera is characterized by clades with low, moderate and extreme chromosomal change. In this article, we will discuss trends of karyotypic evolution within d...

  9. Micromechanics of human mitotic chromosomes

    International Nuclear Information System (INIS)

    Sun, Mingxuan; Kawamura, Ryo; Marko, John F

    2011-01-01

    Eukaryote cells dramatically reorganize their long chromosomal DNAs to facilitate their physical segregation during mitosis. The internal organization of folded mitotic chromosomes remains a basic mystery of cell biology; its understanding would likely shed light on how chromosomes are separated from one another as well as into chromosome structure between cell divisions. We report biophysical experiments on single mitotic chromosomes from human cells, where we combine micromanipulation, nano-Newton-scale force measurement and biochemical treatments to study chromosome connectivity and topology. Results are in accord with previous experiments on amphibian chromosomes and support the 'chromatin network' model of mitotic chromosome structure. Prospects for studies of chromosome-organizing proteins using siRNA expression knockdowns, as well as for differential studies of chromosomes with and without mutations associated with genetic diseases, are also discussed

  10. DNA Catenation Maintains Structure of Human Metaphase Chromosomes

    DEFF Research Database (Denmark)

    L. V. Bauer, David; Marie, Rodolphe; Rasmussen, Kristian Hagsted

    2012-01-01

    Mitotic chromosome structure is pivotal to cell division but difficult to observe in fine detail using conventional methods. DNA catenation has been implicated in both sister chromatid cohesion and chromosome condensation, but has never been observed directly. We have used a lab-on-a-chip microfl...

  11. Analysis of repetitive DNA in chromosomes by flow cytometry

    NARCIS (Netherlands)

    Brind'Amour, Julie; Lansdorp, Peter M.

    We developed a flow cytometry method, chromosome flow fluorescence in situ hybridization (FISH), called CFF, to analyze repetitive DNA in chromosomes using FISH with directly labeled peptide nucleic acid (PNA) probes. We used CFF to measure the abundance of interstitial telomeric sequences in

  12. Visualizing how cancer chromosome abnormalities form in living cells

    Science.gov (United States)

    For the first time, scientists have directly observed events that lead to the formation of a chromosome abnormality that is often found in cancer cells. The abnormality, called a translocation, occurs when part of a chromosome breaks off and becomes attac

  13. Insulin resistance in first-trimester pregnant women with pre-pregnant glucose tolerance and history of recurrent spontaneous abortion.

    Science.gov (United States)

    Hong, Y; Xie, Q X; Chen, C Y; Yang, C; Li, Y Z; Chen, D M; Xie, M Q

    2013-01-01

    Insulin resistance (IR) has been reported to play an important role in recurrent spontaneous abortion (RSA) among patients with polycystic ovary syndrome (PCOS). However, scanted materials exist regarding the independent effect of IR on RSA. The aim of this study is to investigate the status of IR in first trimester pregnant patients with normal pre-pregnant glucose tolerance and history of RSA. This two-center case-control study enrolled totally 626 first trimester pregnant women including 161 patients with a history of recurrent spontaneous abortion, who were pre-pregnantly glucose-tolerant according to oral glucose tolerance test (OGTT), and 465 women with no history of abnormal pregnancies of any kind. Clinical, biochemical and hormonal parameters were simultaneously measured in all participants. Serum beta-HCG, estradiol, progesterone, fasting plasma glucose and fasting plasma insulin levels, as well, the calculated homeostasis model assessment of insulin resistance index (HOMA-IR), fasting plasma glucose/insulin ratio(G/I) and pregnancy outcome were analyzed and compared. Serum beta-HCG and progesterone were found to be significantly lower in RSA group compared to controls. Subjects in RSA group were found to have higher HOMA-IR and lower G/I ratio than those in control group. Serum beta-HCG and progesterone were negatively correlated with HOMA-IR, and positively with G/I ratio even after adjustment for BMI. The spontaneous abortion rate within first trimester pregnancy of RSA patients was significantly higher than that in controls. In conclusion, woman with recurrent spontaneous abortion and normal pre-pregnant glucose metabolism tends to be more insulin resistant during first trimester pregnancy than healthy controls, no matter whether she has PCOS or not. Insulin resistance might be one of the direct causes that lead to recurrent abortion.

  14. Thick corpus callosum in the second trimester can be transient and is of uncertain significance.

    Science.gov (United States)

    Shinar, S; Har-Toov, J; Lerman-Sagie, T; Malinger, G

    2016-10-01

    Depiction of a thick corpus callosum (CC) in utero is rare, and is generally associated with severe brain anomalies. Our aim was to describe a group of fetuses diagnosed during second-trimester ultrasound examination as having an apparently isolated thick CC, which normalized subsequently in the cases followed to term. Among 59 fetuses referred to the Ob-Gyn Ultrasound Division of Lis Maternity Hospital with suspected callosal anomalies between January 2013 and June 2014, we identified nine cases with an apparently isolated thick CC for inclusion in this retrospective cohort study. Length and body thickness of the CC were compared with previously published nomograms. Fetuses with a suspected isolated thick CC were identified and followed until delivery or termination of pregnancy (TOP). Evaluation consisted of chromosomal analysis, at least one magnetic resonance imaging (MRI) examination and repeat ultrasound examinations. Postnatal evaluation included brain ultrasound examination, MRI when indicated and neurodevelopmental assessment through validated pediatric questionnaires. The nine fetuses were diagnosed with an apparently isolated thick CC at a mean gestational age of 23 + 5 (range, 21-29) weeks. Eight exhibited a CC body thickness ≥ 2SD above the mean for gestational age and one exhibited only a thickened genu. Six also exhibited a relatively short CC. Two patients opted for TOP but declined autopsy. In five of the seven remaining fetuses, the CC thickness normalized during follow-up. In the remaining two, the increased CC thickness was a variant of the cingulate sulcus. The CC length remained ≤ 2SD in five of the six fetuses with a short CC. Fetal MRI was performed and confirmed the diagnosis in six fetuses. The karyotype was normal in all fetuses. Short-term neurodevelopmental outcome was reported as normal in all six children with complete follow-up. Although the number of fetuses in our study is relatively small, it seems that an apparently

  15. Origin of amphibian and avian chromosomes by fission, fusion, and retention of ancestral chromosomes

    Science.gov (United States)

    Voss, Stephen R.; Kump, D. Kevin; Putta, Srikrishna; Pauly, Nathan; Reynolds, Anna; Henry, Rema J.; Basa, Saritha; Walker, John A.; Smith, Jeramiah J.

    2011-01-01

    Amphibian genomes differ greatly in DNA content and chromosome size, morphology, and number. Investigations of this diversity are needed to identify mechanisms that have shaped the evolution of vertebrate genomes. We used comparative mapping to investigate the organization of genes in the Mexican axolotl (Ambystoma mexicanum), a species that presents relatively few chromosomes (n = 14) and a gigantic genome (>20 pg/N). We show extensive conservation of synteny between Ambystoma, chicken, and human, and a positive correlation between the length of conserved segments and genome size. Ambystoma segments are estimated to be four to 51 times longer than homologous human and chicken segments. Strikingly, genes demarking the structures of 28 chicken chromosomes are ordered among linkage groups defining the Ambystoma genome, and we show that these same chromosomal segments are also conserved in a distantly related anuran amphibian (Xenopus tropicalis). Using linkage relationships from the amphibian maps, we predict that three chicken chromosomes originated by fusion, nine to 14 originated by fission, and 12–17 evolved directly from ancestral tetrapod chromosomes. We further show that some ancestral segments were fused prior to the divergence of salamanders and anurans, while others fused independently and randomly as chromosome numbers were reduced in lineages leading to Ambystoma and Xenopus. The maintenance of gene order relationships between chromosomal segments that have greatly expanded and contracted in salamander and chicken genomes, respectively, suggests selection to maintain synteny relationships and/or extremely low rates of chromosomal rearrangement. Overall, the results demonstrate the value of data from diverse, amphibian genomes in studies of vertebrate genome evolution. PMID:21482624

  16. Vibrio chromosome-specific families

    DEFF Research Database (Denmark)

    Lukjancenko, Oksana; Ussery, David

    2014-01-01

    We have compared chromosome-specific genes in a set of 18 finished Vibrio genomes, and, in addition, also calculated the pan- and core-genomes from a data set of more than 250 draft Vibrio genome sequences. These genomes come from 9 known species and 2 unknown species. Within the finished...... chromosomes, we find a core set of 1269 encoded protein families for chromosome 1, and a core of 252 encoded protein families for chromosome 2. Many of these core proteins are also found in the draft genomes (although which chromosome they are located on is unknown.) Of the chromosome specific core protein...... families, 1169 and 153 are uniquely found in chromosomes 1 and 2, respectively. Gene ontology (GO) terms for each of the protein families were determined, and the different sets for each chromosome were compared. A total of 363 different "Molecular Function" GO categories were found for chromosome 1...

  17. Use of complementary and alternative medicines during the third trimester.

    Science.gov (United States)

    Pallivalapila, Abdul Rouf; Stewart, Derek; Shetty, Ashalatha; Pande, Binita; Singh, Rajvir; McLay, James S

    2015-01-01

    To estimate the prevalence, indications, and associated factors for complementary and alternative medicine use during the last trimester of pregnancy. A questionnaire survey was conducted of women with a live birth (N=700) admitted to the postnatal unit at the Royal Aberdeen Maternity Hospital, northeast Scotland. Outcome measures included: complementary and alternative medicine used; vitamins and minerals used; reasons for complementary and alternative medicine use; independent associated factors for use; views; and experiences. Descriptive and inferential statistical analysis was performed. The response rate was 79.6% of eligible women. Two thirds of respondents (61.4%) reported using complementary and alternative medicine, excluding vitamins and minerals, during the third trimester. Respondents reported using a total of 30 different complementary and alternative medicine modalities, of which oral herbal products were the most common (38% of respondents, 40 different products). The independent associated factors for complementary and alternative medicine use identified were: complementary and alternative medicine use before pregnancy (odds ratio [OR] 4.36, 95% confidence interval [CI] 2.39-7.95, Palternative medicine use by family or friends (OR 2.36, 95% CI 1.61-3.47, Palternative medicines were safer than prescribed medicines (P=.006), less likely to be associated with side effects (P≤.001), and could interfere with conventional medicines (P≤.001). Despite the majority of respondents, and notably users, being uncertain about their safety and effectiveness, complementary and alternative medicine modalities and complementary and alternative medicine products are widely used during the third trimester of pregnancy in this study population. Although prior use was the most significant independent associated factor, the role of family and friends, rather than health professionals, in the decision to use complementary and alternative medicine may be of concern

  18. ACR Appropriateness Criteria® First Trimester Vaginal Bleeding.

    Science.gov (United States)

    Brown, Douglas L; Packard, Ann; Maturen, Katherine E; Deshmukh, Sandeep Prakash; Dudiak, Kika M; Henrichsen, Tara L; Meyer, Benjamin J; Poder, Liina; Sadowski, Elizabeth A; Shipp, Thomas D; Simpson, Lynn; Weber, Therese M; Zelop, Carolyn M; Glanc, Phyllis

    2018-05-01

    Vaginal bleeding is not uncommon in the first trimester of pregnancy. The majority of such patients will have a normal intrauterine pregnancy (IUP), a nonviable IUP, or an ectopic pregnancy. Ultrasound (US) is the primary imaging modality in evaluation of these patients. US, along with clinical observations and serum human chorionic gonadotropin levels, can usually distinguish these causes. Although it is important to diagnose ectopic pregnancies and nonviable IUPs, one should also guard against injury to normal pregnancies due to inappropriate treatment with methotrexate or surgical intervention. Less common causes of first trimester vaginal bleeding include gestational trophoblastic disease and arteriovenous malformations. Pulsed methods of Doppler US should generally be avoided in the first trimester when there is a normal, or a potentially normal, IUP. Once a normal IUP has been excluded, Doppler US may be useful when other diagnoses such as retained products of conception or arteriovenous malformations are suspected. MRI may occasionally be helpful as a problem-solving tool. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision include an extensive analysis of current medical literature from peer reviewed journals and the application of well-established methodologies (RAND/UCLA Appropriateness Method and Grading of Recommendations Assessment, Development, and Evaluation or GRADE) to rate the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where evidence is lacking or equivocal, expert opinion may supplement the available evidence to recommend imaging or treatment. Copyright © 2018 American College of Radiology. Published by Elsevier Inc. All rights reserved.

  19. Representing and intervening: 'doing' good care in first trimester prenatal knowledge production and decision-making

    DEFF Research Database (Denmark)

    Schwennesen, Nete; Koch, Lene

    2012-01-01

    This article investigates processes of knowledge production and decision-making in the practice of the first trimester prenatal risk assessment (FTPRA) at an ultrasound clinic in Denmark. On the basis of ethnographic material and interviews with professionals facilitating FTPRAs in Denmark, we draw...... attention to the active engagement of health professionals in this process. Current professional and policy debate over the use of prenatal testing emphasises the need for informed choice making and for services that provide prospective parents with what is referred to as 'non-directive counselling...... of reducing emotional suffering and supporting a pregnant woman's ability to make meaningful choices on the basis of uncertain knowledge. As such, these practices can be seen as representing another (caring) solution to the problem of paternalism and authoritarian power. In opposition to an ethics aiming...

  20. Combined first- and second-trimester screening for Down syndrome

    DEFF Research Database (Denmark)

    Rode, Line; Wøjdemann, Karen R; Shalmi, Anne-Cathrine

    2003-01-01

    and their correlations, derived from our normal material and Down syndrome cases from the literature. RESULTS: Using a fixed screen-positive rate (SPR) of 5%, the first-trimester combined test [nuchal translucency (NT), PAPP-A and free beta-hCG] yielded a detection rate (DR) of 76%, and the integrated test (NT, PAPP......%. CONCLUSION: These results suggest that proMBP may be an important new marker in Down syndrome screening and, in particular, a good substitute for inhibin A....

  1. Sexual function of pregnant women in the third trimester

    Directory of Open Access Journals (Sweden)

    Nülüfer Erbil

    2018-06-01

    Full Text Available Introduction: Physical, hormonal and psychological changes during pregnancy can affect a woman’s sexuality as well as a couple’s sexual relationship. The aim of this study was to examine sexual function of pregnant women in the third trimester of pregnancy. Methods: The data of descriptive and cross-sectional study was collected via a questionnaire form and Female Sexual Function Index. A score ≤ 26.55 is classified as female sexual dysfunction. A total of 125 volunteer healthy and married pregnant women in third trimester of pregnancy who admitted to the antenatal policlinics were included in this study. Results: The determined that 92% of participants had sexual dysfunction. The Female Sexual Function Index and domains scores in the 28th-31st, 32nd-35th and 36th and higher gestational weeks of pregnancy were as follows: sexual desire scores, 2.50, 2.77 and 2.40; sexual arousal scores, 2.26, 2.72 and 1.69; lubrication scores, 2.61, 3.42 and 1.97; orgasm scores, 2.51, 2.85 and 1.78; sexual satisfaction scores, 3.17, 3.77 and 2.66; pain scores, 2.44, 2.72 and 1.66, and total Female Sexual Function Index scores were 15.51, 18.29, 12.26, respectively. Sexual arousal (p = 0.008, lubrication (p = 0.001, orgasm (p = 0.031, sexual satisfaction (p = 0.005, pain (p = 0.049 and total Female Sexual Function Index score (p = 0.004 were the lowest in 36th and higher gestational weeks, and only sexual desire did not differ (p = 0.191. Conclusions: Sexual function of pregnant women in the third trimester were negatively effected. Health professionals should be trained to evaluate sexual difficulties in pregnant women and to recommend possible solutions. Keywords: Pregnancy, Sexuality, Third trimester, Female sexual function index

  2. Pancytopenia in the first trimester: An indicator of hidden hyperthyroidism.

    Science.gov (United States)

    Imai, Ken; Ohkuchi, Akihide; Nagayama, Shiho; Saito, Shinsuke; Matsubara, Shigeki; Suzuki, Mitsuaki

    2015-12-01

    Pancytopenia in the first trimester is very rare. A 33-year-old multiparous woman presented with nausea, loss of appetite, and bodyweight loss of 7.4 kg at 9(1/7) weeks of gestation due to hyperemesis gravidarum. Her laboratory data demonstrated pancytopenia involving white blood cell count of 3500/μL, a hemoglobin level of 9.8 g/dL, and a platelet count of 10.5 × 10(4)/μL. An extensive investigation into the causes of the pancytopenia detected true hyperthyroidism: thyroid-stimulating hormone, hyperthyroidism. © 2015 Japan Society of Obstetrics and Gynecology.

  3. First Trimester Down's syndrome screening - pregnant women's knowledge

    DEFF Research Database (Denmark)

    Dahl, Katja; Hvidman, Lone; Jørgensen, Finn Stener

    2011-01-01

    OBJECTIVES: The primary aim of this study was to assess pregnant women's knowledge of first trimester combined Down's syndrome screening in a setting of required informed consent. Secondary, we wanted to identify relevant differences in knowledge level among subgroups of pregnant women, including...... of adverse findings other than Down's syndrome. Knowledge level was positively associated with length of education (adjusted ORs 1.0 (0.8-1.4) to 3.9 (2.4-6.4)) and participation in the screening programme (adjusted OR 0.9 (0.6-1.3) to 5.9 (3.9-8.8)). Participation in an individual information session...

  4. First trimester Down's syndrome screening - pregnant women's knowledge

    DEFF Research Database (Denmark)

    Dahl, Katja; Hvidman, Lone; Jørgensen, Finn Stener

    2011-01-01

    OBJECTIVES: The primary aim of this study was to assess pregnant women's knowledge of first trimester combined Down's syndrome screening in a setting of required informed consent. Secondary, we wanted to identify relevant differences in knowledge level among subgroups of pregnant women, including...... of adverse findings other than Down's syndrome. Knowledge level was positively associated with length of education (adjusted ORs 1.0 (0.8-1.4) to 3.9 (2.4-6.4)) and participation in the screening programme (adjusted OR 0.9 (0.6-1.3) to 5.9 (3.9-8.8)). Participation in an individual information session...

  5. Can molecular cell biology explain chromosome motions?

    Directory of Open Access Journals (Sweden)

    Gagliardi L

    2011-05-01

    Full Text Available Abstract Background Mitotic chromosome motions have recently been correlated with electrostatic forces, but a lingering "molecular cell biology" paradigm persists, proposing binding and release proteins or molecular geometries for force generation. Results Pole-facing kinetochore plates manifest positive charges and interact with negatively charged microtubule ends providing the motive force for poleward chromosome motions by classical electrostatics. This conceptual scheme explains dynamic tracking/coupling of kinetochores to microtubules and the simultaneous depolymerization of kinetochore microtubules as poleward force is generated. Conclusion We question here why cells would prefer complex molecular mechanisms to move chromosomes when direct electrostatic interactions between known bound charge distributions can accomplish the same task much more simply.

  6. Relationships among Constitution, Stress, and Discomfort in the First Trimester

    Directory of Open Access Journals (Sweden)

    Hsiao-Ling Wang

    2012-01-01

    trimester of pregnancy. We adopted a descriptive and correlational research design and collected data from 261 pregnant women during their first trimester in southern Taiwan using structured questionnaires. Results showed that (1 stress was significantly and positively correlated with Yang-Xu, Yin-Xu, and Tan-Shi-Yu-Zhi constitutions, respectively; (2 Yin-Xu and Tan-Shi-Yu-Zhi constitutions had significant correlations with all symptoms of discomfort, while Yang-Xu had significant correlations with all symptoms of discomfort except for “running nose”; (3 Tan-Shi-Yu-Zhi constitution and stress were two indicators for “fatigue”; Tan-Shi-Yu-Zhi was the indicator for “nausea”; Yang-Xu and Yin-Xu were indicators for “frequent urination.” Our findings also indicate that stress level affects constitutional changes and that stress and constitutional change affect the incidence of discomfort. This research can help healthcare professionals observe these discomforts and provide individualized care for pregnant women, to nurture pregnant women into neutral-type constitution, minimize their levels of discomfort, and promote the health of the fetus and the mother.

  7. Large Clinically Consequential Imbalances Detected at the Breakpoints of Apparently Balanced and Inherited Chromosome Rearrangements

    OpenAIRE

    South, Sarah T.; Rector, Lyndsey; Aston, Emily; Rowe, Leslie; Yang, Samuel P.

    2010-01-01

    When a chromosome abnormality is identified in a child with a developmental delay and/or multiple congenital anomalies and the chromosome rearrangement appears balanced, follow-up studies often examine both parents for this rearrangement. If either clinically unaffected parent has a chromosome abnormality with a banding pattern identical to the affected child's study, then it is assumed that the chromosome rearrangement is balanced and directly inherited from the normal carrier parent. It is ...

  8. First trimester phthalate exposure and anogenital distance in newborns

    Science.gov (United States)

    Swan, S.H.; Sathyanarayana, S.; Barrett, E.S.; Janssen, S.; Liu, F.; Nguyen, R.H.N.; Redmon, J.B.; Liu, Fan; Scher, Erica; Stasenko, Marina; Ayash, Erin; Schirmer, Melissa; Farrell, Jason; Thiet, Mari-Paule; Baskin, Laurence; Gray Chelsea Georgesen, Heather L.; Rody, Brooke J.; Terrell, Carrie A.; Kaur, Kapilmeet; Brantley, Erin; Fiore, Heather; Kochman, Lynda; Parlett, Lauren; Marino, Jessica; Hulbert, William; Mevorach, Robert; Pressman, Eva; Ivicek, Kristy; Salveson, Bobbie; Alcedo, Garry

    2015-01-01

    STUDY QUESTION Is first trimester phthalate exposure associated with anogenital distance (AGD), a biomarker of prenatal androgen exposure, in newborns? SUMMARY ANSWER Concentrations of diethylhexyl phthalate (DEHP) metabolites in first trimester maternal urine samples are inversely associated with AGD in male, but not female, newborns. WHAT IS KNOWN ALREADY AGD is a sexually dimorphic measure reflecting prenatal androgen exposure. Prenatal phthalate exposure has been associated with shorter male AGD in multiple animal studies. Prior human studies, which have been limited by small sample size and imprecise timing of exposure and/or outcome, have reported conflicting results. STUDY DESIGN, SIZE, DURATION The Infant Development and the Environment Study (TIDES) is a prospective cohort study of pregnant women recruited in prenatal clinics in San Francisco, CA, Minneapolis, MN, Rochester, NY and Seattle, WA in 2010–2012. Participants delivered 787 infants; 753 with complete data are included in this analysis. PARTICIPANTS/MATERIALS, SETTING, METHODS Any woman over 18 years old who was able to read and write English (or Spanish in CA), who was <13 weeks pregnant, whose pregnancy was not medically threatened and who planned to deliver in a study hospital was eligible to participate. Analyses include all infants whose mothers provided a first trimester urine sample and who were examined at or shortly after birth. Specific gravity (SpG) adjusted concentrations of phthalate metabolites in first trimester urine samples were examined in relation to genital measurements. In boys (N = 366), we obtained two measures of anogenital distance (AGD) (anoscrotal distance, or AGDAS and anopenile distance, AGDAP) as well as penile width (PW). In girls (N = 373), we measured anofourchette distance (AGDAF) and anoclitoral distance (AGDAC). We used multivariable regression models that adjusted for the infant's age at exam, gestational age, weight-for-length Z-score, time of day of urine

  9. Electochemical detection of chromosome translocation

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Dimaki, Maria; Silahtaroglu, Asli

    2014-01-01

    Cytogenetics is a study of the cell structure with a main focus on chromosomes content and their structure. Chromosome abnormalities, such as translocations may cause various genetic disorders and heametological malignancies. Chromosome translocations are structural rearrangements of two...... chromosomes that results in formation of derivative chromosomes with a mixed DNA sequence. The method currently used for their detection is Fluorescent In Situ Hybridization, which requires a use of expensive, fluorescently labeled probes that target the derivative chromosomes. We present here a double...... hybridization approach developed for label-free detection of the chromosome translocations. For specific translocation detection it is necessary to determine that the two DNA sequences forming a derivative chromosome are connected, which is achieved by two subsequent hybridization steps. The electrochemical...

  10. Mutations and chromosomal aberrations

    International Nuclear Information System (INIS)

    Kihlman, B.A.

    1977-01-01

    The genetic changes of mutations and chromosomal aberrations are discussed. The consequences of both depend not only on the type of genetic change produced but also on the type of cell that is affected and on the development stage of the organism. (C.F.)

  11. Chromosomes, cancer and radiosensitivity

    International Nuclear Information System (INIS)

    Samouhos, E.

    1983-01-01

    Some specific chromosomal abnormalities are associated with certain cancers. The earliest description of such a specific association is the one of the Philadelphia chromosome and myelogenous leukemia (1960). Other congenital karyotype abnormalities are associated with specific cancers. Examples of these are Down's syndrome with leukemia and Klinefelter's syndrome with male breast cancer. Genetic diseases of increased chromosome breakage, or of defective chromosome repair, are associated with greatly increased cancer incidence. Three such diseases have been recognized: 1) Fanconi's anemia, associated with leukemias and lymphomas, 2) Bloom's syndrome, associated with acute leukemias and lymphosarcoma, and 3) ataxia telangiectasia, associated with Hodgkin's disease, leukemia, and lymphosarcomas. Ten percent of individuals with ataxia telangiectasia will develop one of these neoplasms. Individuals with certain of these syndromes display an unusually high radiosensitivity. Radiation therapy for cancers has been fatal in patients who received as low as 3000 rad. This remarkable radiosensitivity has been quantitated in cell cultures from such cases. Evidence suggests that the apparent sensitivity may reflect subnormal ability to repair radiation damage. The rapid proliferation of information in this field stems from the interdigitation of many disciplines and specialties, including cytogenetics, cell biology, molecular biology, epidemiology, radiobiology, and several others. This paper is intended for clinicians; it presents a structured analytic scheme for correlating and classifying this multidisciplinary information as it becomes available

  12. Know Your Chromosomes

    Indian Academy of Sciences (India)

    Home; Journals; Resonance – Journal of Science Education; Volume 1; Issue 3. Know Your Chromosomes The Strong Holds of Family Trees. Vani Brahmachari. Series Article Volume 1 Issue 3 March 1996 pp 30-38. Fulltext. Click here to view fulltext PDF. Permanent link:

  13. Ring chromosome 13

    DEFF Research Database (Denmark)

    Brandt, C A; Hertz, Jens Michael; Petersen, M B

    1992-01-01

    A stillborn male child with anencephaly and multiple malformations was found to have the karyotype 46,XY,r(13) (p11q21.1). The breakpoint at 13q21.1, determined by high resolution banding, is the most proximal breakpoint ever reported in patients with ring chromosome 13. In situ hybridisation...

  14. Telomere dysfunction and chromosome instability

    Energy Technology Data Exchange (ETDEWEB)

    Murnane, John P., E-mail: jmurnane@radonc.ucsf.edu [Department of Radiation Oncology, University of California San Francisco, 2340 Sutter Street, San Francisco, CA 94143-1331 (United States)

    2012-02-01

    The ends of chromosomes are composed of a short repeat sequence and associated proteins that together form a cap, called a telomere, that keeps the ends from appearing as double-strand breaks (DSBs) and prevents chromosome fusion. The loss of telomeric repeat sequences or deficiencies in telomeric proteins can result in chromosome fusion and lead to chromosome instability. The similarity between chromosome rearrangements resulting from telomere loss and those found in cancer cells implicates telomere loss as an important mechanism for the chromosome instability contributing to human cancer. Telomere loss in cancer cells can occur through gradual shortening due to insufficient telomerase, the protein that maintains telomeres. However, cancer cells often have a high rate of spontaneous telomere loss despite the expression of telomerase, which has been proposed to result from a combination of oncogene-mediated replication stress and a deficiency in DSB repair in telomeric regions. Chromosome fusion in mammalian cells primarily involves nonhomologous end joining (NHEJ), which is the major form of DSB repair. Chromosome fusion initiates chromosome instability involving breakage-fusion-bridge (B/F/B) cycles, in which dicentric chromosomes form bridges and break as the cell attempts to divide, repeating the process in subsequent cell cycles. Fusion between sister chromatids results in large inverted repeats on the end of the chromosome, which amplify further following additional B/F/B cycles. B/F/B cycles continue until the chromosome acquires a new telomere, most often by translocation of the end of another chromosome. The instability is not confined to a chromosome that loses its telomere, because the instability is transferred to the chromosome donating a translocation. Moreover, the amplified regions are unstable and form extrachromosomal DNA that can reintegrate at new locations. Knowledge concerning the factors promoting telomere loss and its consequences is

  15. Maternal anemia in various trimesters and its effect on newborn weight and maturity: An observational study

    Directory of Open Access Journals (Sweden)

    K Jagadish Kumar

    2013-01-01

    Conclusions: The incidence of low birth weight babies was significantly more in mothers who were anemic in their third trimester. Preterm deliveries occurred more frequently in mothers who were anemic in their second and third trimesters. Higher hemoglobin did not show any effect on either birth weight or gestation in our study.

  16. Decreased IGF-1 concentration during the first trimester of pregnancy in women with normal somatotroph function.

    Science.gov (United States)

    Persechini, Marie-Laure; Gennero, Isabelle; Grunenwald, Solange; Vezzosi, Delphine; Bennet, Antoine; Caron, Philippe

    2015-08-01

    A decrease of insulin-like growth factor-I levels (IGF-I) has been reported during the first trimester of pregnancy in women with acromegaly before the secretion of placental growth hormone (GH) progressively increases IGF-1 concentration. To evaluate variations of concentrations of IGF-1, insulin-like growth factor (IGF)-binding protein-3 (IGF-BP3) and GH during the first trimester of pregnancy in women with normal somatotroph function. Sixteen women (median age 31 years) with as who were followed for benign thyroid disorders (n = 15) or prolactin-secreting microadenoma (n = 1) were evaluated before and in the first trimester of pregnancy. Serum concentrations of GH, IGF-1, IGF-BP3, TSH and estradiol (E2) were measured before and in the first trimester (5.4 ± 2.2 weeks of gestation). Before pregnancy, somatotroph and thyroid functions (median TSH 1.2 mU/L) were normal in all women. At the first trimester IGF-1 levels decreased significantly (before = 210 ng/mL, first trimester = 145 ng/mL, p function, IGF-1 levels decrease in the first trimester of pregnancy without changes in GH or IGF-BP3 levels. These results confirm liver resistance to GH as a consequence of the physiological increase of estrogens during the first trimester.

  17. Ultrasound detection of placenta accreta in the first trimester of pregnancy.

    Science.gov (United States)

    Rahimi-Sharbaf, Fatemeh; Jamal, Ashraf; Mesdaghinia, Elaheh; Abedzadeh-Kalahroudi, Masoumeh; Niroomanesh, Shirin; Atoof, Fatemeh

    2014-06-01

    Placenta accreta is considered a life-threatening condition and the main cause of maternal mortality. Prenatal diagnosis of placenta accreta usually is made by clinical presentation, imaging studies like ultrasound and MRI in the second and third trimester. To determine accuracy of ultrasound findings for placenta accreta in the first trimester of pregnancy. In a longitudinal study 323 high risk patients for placenta accreta were assessed. The eligible women were examined by vaginal and abdominal ultrasound for gestational sac and placental localization and they were followed up until the end of pregnancy. The ultrasound findings were compared with histopathological examinations as a gold standard. The sensitivity, specificity, positive and negative predictive value of ultrasound were estimated for the first trimester and compared with other 2 trimesters in the case of repeated ultrasound examination. Ultrasound examinations in the first trimester revealed that 28 cases had the findings in favor of placenta accreta which ultimately was confirmed in 7 cases. The ultrasound sensitivity and specificity for detecting placenta accreta in the first trimester was 41% [95% CI: 16.2-62.7] and 88% [95% CI: 88.2-94.6] respectively. Ultrasound screening for placenta accreta in the first trimester of pregnancy could not achieve the high sensitivity as second and third trimester of pregnancy.

  18. First trimester screening for intra-uterine growth restriction and early-onset pre-eclampsia

    NARCIS (Netherlands)

    Vandenberghe, G.; Mensink, I.; Twisk, J. W. R.; Blankenstein, M. A.; Heijboer, A. C.; van Vugt, J. M. G.

    2011-01-01

    To assess first trimester placental growth factor (PlGF) and pregnancy-associated plasma protein-A (PAPP-A) as screening markers for early-onset pre-eclampsia (PE) and intra-uterine growth restriction (IUGR). PlGF concentration was retrospectively measured in first trimester serum specimens of 23

  19. First trimester screening for intra-uterine growth restriction and early-onset pre-eclampsia

    NARCIS (Netherlands)

    Vandenberghe, G.; Mensink, I.; Twisk, J.W.; Blankenstein, M.A.; Heijboer, A.C.; van Vugt, J.M.

    2011-01-01

    Objective: To assess first trimester placental growth factor (PlGF) and pregnancy-associated plasma protein-A (PAPP-A) as screening markers for early-onset pre-eclampsia (PE) and intra-uterine growth restriction (IUGR). Methods: PlGF concentration was retrospectively measured in first trimester

  20. ADAM 12 as a second-trimester maternal serum marker in screening for Down syndrome

    DEFF Research Database (Denmark)

    Christiansen, Michael; Spencer, Kevin; Laigaard, Jennie

    2007-01-01

    ADAM 12 is a placenta-derived glycoprotein that is involved in growth and differentiation. The maternal serum concentration of ADAM 12 is a potential first-trimester maternal serum marker of Down syndrome (DS). Here we examine the potential of ADAM 12 as a second-trimester maternal serum marker...

  1. Fetal first trimester growth is not associated with kidney outcomes in childhood

    NARCIS (Netherlands)

    H. Bakker (Hanneke); R. Gaillard (Romy); A. Hofman (Albert); I.K.M. Reiss (Irwin); E.A.P. Steegers (Eric); V.W.V. Jaddoe (Vincent)

    2017-01-01

    textabstractBackground: Impaired fetal growth is associated with increased risks of kidney diseases in later life. Because human development rates are highest during the first trimester, this trimester may be a particularly critical period for kidney outcomes. We have therefore examined the

  2. Radiation-induced cytogenetic damage in relation to changes in interphase chromosome conformation

    International Nuclear Information System (INIS)

    Pantelias, G.E.

    1986-01-01

    The premature chromosome condensation (PCC) technique was used to study several factors that determine the yield of chromosome fragments as observed in interphase cells after irradiation. In addition to absorbed dose and the extent of chromosome condensation at the time of irradiation, changes in chromosome conformation as cells progressed through the cell cycle after irradiation affected dramatically the yield of chromosome fragments observed. As a test of the effect of chromosome decondensation, irradiated metaphase Chinese hamster ovary (CHO) cells were allowed to divide, and the prematurely condensed chromosomes in the daughter cells were analyzed in their G1 phase. The yield of chromosome fragments increased as the daughter cells progressed toward S phase and chromosome decondensation occurred. When early G1 CHO cells were irradiated and analyzed at later times in G1 phase, an increase in chromosome fragmentation again followed the gradual increase in chromosome decondensation. As a test of the effect of chromosome condensation, G0 human lymphocytes were irradiated and analyzed at various times after fusion with mitotic CHO cells, i.e., as condensation proceeded. The yield of fragments observed was directly related to the amount of chromosome condensation allowed to take place after irradiation and inversely related to the extent of chromosome condensation at the time of irradiation. It can be concluded that changes in chromosome conformation interfered with rejoining processes. In contrast, resting chromosomes (as in G0 lymphocytes irradiated before fusion) showed efficient rejoining. These results support the hypothesis that cytogenetic lesions become observable chromosome breaks when chromosome condensation or decondensation occurs during the cell cycle

  3. An approach to automated chromosome analysis

    International Nuclear Information System (INIS)

    Le Go, Roland

    1972-01-01

    The methods of approach developed with a view to automatic processing of the different stages of chromosome analysis are described in this study divided into three parts. Part 1 relates the study of automated selection of metaphase spreads, which operates a decision process in order to reject ail the non-pertinent images and keep the good ones. This approach has been achieved by Computing a simulation program that has allowed to establish the proper selection algorithms in order to design a kit of electronic logical units. Part 2 deals with the automatic processing of the morphological study of the chromosome complements in a metaphase: the metaphase photographs are processed by an optical-to-digital converter which extracts the image information and writes it out as a digital data set on a magnetic tape. For one metaphase image this data set includes some 200 000 grey values, encoded according to a 16, 32 or 64 grey-level scale, and is processed by a pattern recognition program isolating the chromosomes and investigating their characteristic features (arm tips, centromere areas), in order to get measurements equivalent to the lengths of the four arms. Part 3 studies a program of automated karyotyping by optimized pairing of human chromosomes. The data are derived from direct digitizing of the arm lengths by means of a BENSON digital reader. The program supplies' 1/ a list of the pairs, 2/ a graphic representation of the pairs so constituted according to their respective lengths and centromeric indexes, and 3/ another BENSON graphic drawing according to the author's own representation of the chromosomes, i.e. crosses with orthogonal arms, each branch being the accurate measurement of the corresponding chromosome arm. This conventionalized karyotype indicates on the last line the really abnormal or non-standard images unpaired by the program, which are of special interest for the biologist. (author) [fr

  4. The study of human Y chromosome variation through ancient DNA.

    Science.gov (United States)

    Kivisild, Toomas

    2017-05-01

    High throughput sequencing methods have completely transformed the study of human Y chromosome variation by offering a genome-scale view on genetic variation retrieved from ancient human remains in context of a growing number of high coverage whole Y chromosome sequence data from living populations from across the world. The ancient Y chromosome sequences are providing us the first exciting glimpses into the past variation of male-specific compartment of the genome and the opportunity to evaluate models based on previously made inferences from patterns of genetic variation in living populations. Analyses of the ancient Y chromosome sequences are challenging not only because of issues generally related to ancient DNA work, such as DNA damage-induced mutations and low content of endogenous DNA in most human remains, but also because of specific properties of the Y chromosome, such as its highly repetitive nature and high homology with the X chromosome. Shotgun sequencing of uniquely mapping regions of the Y chromosomes to sufficiently high coverage is still challenging and costly in poorly preserved samples. To increase the coverage of specific target SNPs capture-based methods have been developed and used in recent years to generate Y chromosome sequence data from hundreds of prehistoric skeletal remains. Besides the prospects of testing directly as how much genetic change in a given time period has accompanied changes in material culture the sequencing of ancient Y chromosomes allows us also to better understand the rate at which mutations accumulate and get fixed over time. This review considers genome-scale evidence on ancient Y chromosome diversity that has recently started to accumulate in geographic areas favourable to DNA preservation. More specifically the review focuses on examples of regional continuity and change of the Y chromosome haplogroups in North Eurasia and in the New World.

  5. Pregnancy Outcome after Varenicline Exposure in the First Trimester

    Directory of Open Access Journals (Sweden)

    Yusuf Cem Kaplan

    2014-01-01

    Full Text Available To the best of our knowledge this is the first case report describing exposure to varenicline, an α4β2 nicotinic acetylcholine partial receptor agonist used for smoking cessation therapy in pregnancy. A 29-year-old multiparous woman with an unplanned pregnancy has used varenicline 2 mg/day unintentionally yet regularly 4 weeks from her last menstrual period. Fetal ultrasound performed at each trimester, detailed anomaly scan, and fetal echocardiography which were performed at the 22nd gestational week showed normal fetal growth with no malformations. The patient delivered a healthy baby at the 38th week of gestation with normal Apgar score and physical examination findings. Age-appropriate physical and neurological development of the child has been observed for 6 months. Although it is not possible to draw definitive conclusions, this case report may contribute to the current available limited data regarding the safety of varenicline use in pregnancy.

  6. First trimester nicotine exposure and the risk of infantile colic

    DEFF Research Database (Denmark)

    Milidou, Ioanna; Henriksen, Tine Brink; Jensen, Morten Søndergaard

    Background: Although prenatal exposure to maternal smoking has been associated with infantile colic (IC), to date no published studies have reported on the relationship between the prenatal use of nicotine replacement therapy (NRT) and IC. Aim: We aimed to assess the relationship between fetal...... exposure to nicotine, coming from both cigarette smoking and use of NRT early in pregnancy, and IC. Methods: The study population consisted of 63,883 pregnancies that resulted in live born singletons enrolled in the Danish National Birth Cohort between 1997 and 2002. Mother’s smoking habits and use of NRT......: The results indicate that prenatal exposure to nicotine from any source during the first trimester of the pregnancy increases the risk of infantile colic....

  7. Induced first-trimester abortion and risk of mental disorder

    DEFF Research Database (Denmark)

    Munk-Olsen, Trine; Laursen, Thomas Munk; Pedersen, Carsten B

    2011-01-01

    Background Concern has been expressed about potential harm to women's mental health in association with having an induced abortion, but it remains unclear whether induced abortion is associated with an increased risk of subsequent psychiatric problems. Methods We conducted a population-based cohort......-trimester induced abortion or a first childbirth during that period. We estimated the rates of first-time psychiatric contact (an inpatient admission or outpatient visit) for any type of mental disorder within the 12 months after the abortion or childbirth as compared with the 9-month period preceding the event....... Results The incidence rates of first psychiatric contact per 1000 person-years among girls and women who had a first abortion were 14.6 (95% confidence interval [CI], 13.7 to 15.6) before abortion and 15.2 (95% CI, 14.4 to 16.1) after abortion. The corresponding rates among girls and women who had a first...

  8. A Fetus with Iniencephaly Delivered at the Third Trimester

    Directory of Open Access Journals (Sweden)

    Esra Cinar Tanriverdi

    2015-01-01

    Full Text Available Iniencephaly is an uncommon neural tube defect, having retroflexion of the head without a neck and severe distortion of the spine. Iniencephaly is classified into two groups, iniencephaly apertus (with encephalocele and iniencephaly clausus (without encephalocele. Incidence ranges from 0.1 to 10 in 10.000 pregnancies and it is seen more frequently in girls. Most of the fetuses with this defect die before birth or soon after birth, while those with the milder forms may live through childhood. Recurrence risk is around 1–5%. Family should be offered termination to reduce maternal risks and counseled for folic acid supplementation before the next planned pregnancy. Here we present a rare case of iniencephaly clausus which was diagnosed at 18th week of gestation by ultrasonography and delivered in the third trimester of pregnancy due to rejection of termination.

  9. The X chromosome in space.

    Science.gov (United States)

    Jégu, Teddy; Aeby, Eric; Lee, Jeannie T

    2017-06-01

    Extensive 3D folding is required to package a genome into the tiny nuclear space, and this packaging must be compatible with proper gene expression. Thus, in the well-hierarchized nucleus, chromosomes occupy discrete territories and adopt specific 3D organizational structures that facilitate interactions between regulatory elements for gene expression. The mammalian X chromosome exemplifies this structure-function relationship. Recent studies have shown that, upon X-chromosome inactivation, active and inactive X chromosomes localize to different subnuclear positions and adopt distinct chromosomal architectures that reflect their activity states. Here, we review the roles of long non-coding RNAs, chromosomal organizational structures and the subnuclear localization of chromosomes as they relate to X-linked gene expression.

  10. Induced first-trimester abortion and risk of mental disorder.

    Science.gov (United States)

    Munk-Olsen, Trine; Laursen, Thomas Munk; Pedersen, Carsten B; Lidegaard, Øjvind; Mortensen, Preben Bo

    2011-01-27

    Concern has been expressed about potential harm to women's mental health in association with having an induced abortion, but it remains unclear whether induced abortion is associated with an increased risk of subsequent psychiatric problems. We conducted a population-based cohort study that involved linking information from the Danish Civil Registration system to the Danish Psychiatric Central Register and the Danish National Register of Patients. The information consisted of data for girls and women with no record of mental disorders during the 1995-2007 period who had a first-trimester induced abortion or a first childbirth during that period. We estimated the rates of first-time psychiatric contact (an inpatient admission or outpatient visit) for any type of mental disorder within the 12 months after the abortion or childbirth as compared with the 9-month period preceding the event. The incidence rates of first psychiatric contact per 1000 person-years among girls and women who had a first abortion were 14.6 (95% confidence interval [CI], 13.7 to 15.6) before abortion and 15.2 (95% CI, 14.4 to 16.1) after abortion. The corresponding rates among girls and women who had a first childbirth were 3.9 (95% CI, 3.7 to 4.2) before delivery and 6.7 (95% CI, 6.4 to 7.0) post partum. The relative risk of a psychiatric contact did not differ significantly after abortion as compared with before abortion (P = 0.19) but did increase after childbirth as compared with before childbirth (P abortion does not support the hypothesis that there is an increased risk of mental disorders after a first-trimester induced abortion.

  11. [Chromomeric organization of interphase chromosomes in Drosophila melanogaster].

    Science.gov (United States)

    Zhuimulev, I F; Beliaeva, E S; Zykova, T Iu; Semeshin, V F; Demakov, S A; Demakova, O V; Goncharov, F P; Khoroshko, V A; Boldyreva, L V; Kokoza, E B; Pokholkiova, G V

    2013-01-01

    As a result of treatment of bioinformatic data on the genome localization of structural proteins, histone modifications, DNase-hypersensitive regions, replication origins (taken from modENCODE) and their cytological localization to polytene chromosome structures, it is shown here that two types of interphase chromosomes -polytene chromosomes from salivary glands and from mitotically dividing cells cultures - demonstrate identical pictures of interband/band, i. e. the same localization and length on physical map and the same sets of proteins. In the interbands of both chromosome types we find the proteins that control initiation of transcription (RNA-polymerase II, transcription factors), replication (ORC2) as well as proteins modifying nucleosome structure (WDS, NURF) and proteins of insulators (BEAF). The nucleosome density and H1 histone concentration in the interbands are depleted; localization of DNase-hypersensitive regions corresponds strictly to the interbands. So, we conclude that both polytene and cell line interphase chromosomes are arranged according to general principle and polytene chromosomes represent precise model of interphase chromosomes. The interbands play a critical role in the initiation of transcription and replication. The interbands of interphase chromosomes are the sites of 5' parts of genes, while the 3' gene ends are located in the adjacent bands. The constancy of interbands decondensation results in the conclusion that the "interbands" genes are constantly active, i. e. they contain "house-keeping" genes. The large late replicating bands contain genes that do not have direct contact to the adjoining interbands are usually polygenic and contain tissue-specific genes.

  12. Factors associated with second trimester abortion in rural Maharashtra and Rajasthan, India.

    Science.gov (United States)

    Zavier, A J Francis; Jejeebhoy, Shireen; Kalyanwala, Shveta

    2012-01-01

    Many married women in India experience abortion in their second trimester of pregnancy. While there is an impression that second trimester abortions are now overwhelmingly used for sex selection, little is known about the extent to which second trimester abortions are indeed associated with son preference and sex selection motives, relative to other factors. Using data from a community-based study in rural Maharashtra and Rajasthan, research highlights the role of limited access in explaining second trimester abortion. While women with a single child who was a daughter were indeed more likely than other women to have terminated a pregnancy carrying a female foetus in the second trimester, more strikingly, exclusion from abortion-related decision-making, unsuccessful prior attempts to terminate the pregnancy, and distance from the facility in which their abortion was performed, were significantly associated with second trimester abortion, even after controlling for confounding factors. The study calls for greater efficiency in implementing the PCPNDT Act and addressing deep-rooted son preference. At the same time, findings that poverty and limited access to facilities are as, if not more, important drivers of second trimester abortion, highlight the need to meet commitments to ensure accessible abortion facilities for poor rural women.

  13. Kinematic Analysis of Gait in the Second and Third Trimesters of Pregnancy

    Directory of Open Access Journals (Sweden)

    Marco Branco

    2013-01-01

    Full Text Available The kinematic analysis of gait during pregnancy provides more information about the anatomical changes and contributes to exercise and rehabilitation prescription. The purposes were to quantify the lower limb kinematics of gait and to compare it between the second and third trimesters of pregnancy and with a control group. A three-dimensional analysis was performed in twenty-two pregnant women and twelve nonpregnant. Repeated Measures and Manova tests were performed for comparisons between trimesters and between pregnant and controls. The walking speed, stride width, right-/left-step time, cycle time and time of support, and flight phases remain unchanged between trimesters and between pregnant and controls. Stride and right-/left-step lengths decreased between trimesters. Double limb support time increased between trimesters, and it increased when compared with controls. Joint kinematics showed a significant decrease of right-hip extension and adduction during stance phase between trimesters and when compared with controls. Also, an increase in left-knee flexion and a decrease in right-ankle plantarflexion were found between trimesters. The results suggested that pregnant women need to maintain greater stability of body and to become more efficient in locomotion. Further data from the beginning of pregnancy anthropometric data may contribute to the analysis.

  14. Fetal first trimester growth is not associated with kidney outcomes in childhood.

    Science.gov (United States)

    Bakker, Hanneke; Gaillard, Romy; Hofman, Albert; Reiss, Irwin K; Steegers, Eric A P; Jaddoe, Vincent W V

    2017-04-01

    Impaired fetal growth is associated with increased risks of kidney diseases in later life. Because human development rates are highest during the first trimester, this trimester may be a particularly critical period for kidney outcomes. We have therefore examined the association of fetal first trimester growth with kidney outcomes in childhood. This study was embedded in a prospective population-based cohort study among 1176 pregnant women and their children. We used fetal first trimester crown-length as the growth measure among mothers with a regular menstrual cycle and a known first day of the last menstrual period. At the childhood age of 6 (median 5.7-6.8) years, we measured combined kidney volume, microalbuminuria and estimated glomerular filtration rate (eGFR) based on serum creatinine and cystatin C concentrations. No consistent associations of fetal first trimester crown-rump length with childhood combined kidney volume, eGFR and microalbuminuria were observed. Compared to children with a fetal first trimester crown-rump length in the highest quintile, those in the lowest quintile had a larger childhood combined kidney volume (difference 5.32 cm 3 , 95 % confidence interval 1.06 to 9.57), but no differences in kidney function. Our results do not support the hypothesis that fetal first trimester growth restriction affects kidney size and function in childhood. Further studies are needed to focus on critical periods in early life for kidney function and disease in later life.

  15. Difficult cases for chromosomal dosimetry: Statistical considerations

    Energy Technology Data Exchange (ETDEWEB)

    Vinnikov, Volodymyr A., E-mail: vlad.vinnikov@mail.ru [Grigoriev Institute for Medical Radiology of the National Academy of Medical Science of Ukraine, Pushkinskaya Street 82, Kharkiv 61024 (Ukraine); Ainsbury, Elizabeth A., E-mail: liz.ainsbury@hpa.org.uk [Health Protection Agency, Centre for Radiation, Chemical and Environmental Hazards, Chilton, Didcot, Oxon OX11 0RQ (United Kingdom); Lloyd, David C., E-mail: david.lloyd@hpa.org.uk [Health Protection Agency, Centre for Radiation, Chemical and Environmental Hazards, Chilton, Didcot, Oxon OX11 0RQ (United Kingdom); Maznyk, Nataliya A., E-mail: maznik.cytogen@mail.ru [Grigoriev Institute for Medical Radiology of the National Academy of Medical Science of Ukraine, Pushkinskaya Street 82, Kharkiv 61024 (Ukraine); Rothkamm, Kai, E-mail: kai.rothkamm@hpa.org.uk [Health Protection Agency, Centre for Radiation, Chemical and Environmental Hazards, Chilton, Didcot, Oxon OX11 0RQ (United Kingdom)

    2011-09-15

    Several examples are selected from the literature in order to illustrate combinations of complicating factors, which may occur in real-life radiation exposure scenarios that affect the accuracy of cytogenetic dose estimates. An analysis of limitations in the current statistical methods used in biodosimetry was carried out. Possible directions for further improvement of the statistical basis of chromosomal dosimetry by specific mathematical procedures are outlined.

  16. Trimester- and Assay-Specific Thyroid Reference Intervals for Pregnant Women in China

    Directory of Open Access Journals (Sweden)

    Jinfang Xing

    2016-01-01

    Full Text Available Objective. The guidelines of the American Thyroid Association (ATA recommend an upper limit reference interval (RI of thyroid stimulating hormone (TSH of 2.5 mIU/L in the first trimester of pregnancy and 3.0 mIU/L in subsequent trimesters, but some reported ranges in China are significantly higher. Our study aimed to establish trimester- and assay-specific RIs for thyroid hormones in normal pregnant Chinese women. Methods. In this cross-sectional study, 2540 women with normal pregnancies (first trimester, n=398; second trimester, n=797; third trimester, n=1345 and 237 healthy nonpregnant control subjects were recruited. Serum TSH, free thyroxin (FT4, thyroid peroxidase antibody (TPOAb, and thyroglobulin antibody (TgAb levels were determined by automated chemiluminescence with an Immulite 2000 system (Siemens, Erlangen, Germany. After outliers were excluded, the 2.5–97.5th percentiles were used to define the RIs. Results. The RIs of thyroid function in the first, second, and third trimesters of pregnancy and in nonpregnant controls were 0.07–3.96, 0.27–4.53, 0.48–5.40, and 0.69–5.78 mIU/L for TSH and 9.16–18.12, 8.67–16.21, 7.80–13.90, and 8.24–16.61 pmol/L for FT4, respectively. Conclusion. The trimester- and assay-specific RIs of thyroid function during pregnancy differed between trimesters, which suggests that it is advisable to detect and avoid misclassification of thyroid dysfunction during pregnancy for women in Henan, China.

  17. Prenatal screening for chromosomal abnormalities in IVF patients that opted for preimplantation genetic screening/diagnosis (PGS/D): a need for revised algorithms in the era of personalized medicine.

    Science.gov (United States)

    Takyi, Afua; Santolaya-Forgas, Joaquin

    2017-06-01

    Obstetricians offer prenatal screening for most common chromosomal abnormalities to all pregnant women including those that had in vitro fertilization (IVF) and preimplantation genetic screening/diagnosis (PGS/D). We propose that free fetal DNA in maternal circulation together with the second trimester maternal serum alfa feto protein (MSAFP) and ultrasound imaging is the best prenatal screening test for chromosomal abnormalities and congenital anomalies in IVF-PGD/S patients because risk estimations from all other prenatal screening algorithms for chromosomal abnormalities depend heavily on maternal age which is irrelevant in PGS/D patients.

  18. Meiotic double-strand breaks at the interface of chromosome movement, chromosome remodeling, and reductional division

    Science.gov (United States)

    Storlazzi, Aurora; Tessé, Sophie; Gargano, Silvana; James, Françoise; Kleckner, Nancy; Zickler, Denise

    2003-01-01

    Chromosomal processes related to formation and function of meiotic chiasmata have been analyzed in Sordaria macrospora. Double-strand breaks (DSBs), programmed or γ-rays-induced, are found to promote four major events beyond recombination and accompanying synaptonemal complex formation: (1) juxtaposition of homologs from long-distance interactions to close presynaptic coalignment at midleptotene; (2) structural destabilization of chromosomes at leptotene/zygotene, including sister axis separation and fracturing, as revealed in a mutant altered in the conserved, axis-associated cohesin-related protein Spo76/Pds5p; (3) exit from the bouquet stage, with accompanying global chromosome movements, at zygotene/pachytene (bouquet stage exit is further found to be a cell-wide regulatory transition and DSB transesterase Spo11p is suggested to have a new noncatalytic role in this transition); (4) normal occurrence of both meiotic divisions, including normal sister separation. Functional interactions between DSBs and the spo76-1 mutation suggest that Spo76/Pds5p opposes local destabilization of axes at developing chiasma sites and raise the possibility of a regulatory mechanism that directly monitors the presence of chiasmata at metaphase I. Local chromosome remodeling at DSB sites appears to trigger an entire cascade of chromosome movements, morphogenetic changes, and regulatory effects that are superimposed upon a foundation of DSB-independent processes. PMID:14563680

  19. Molecular fundamentals of chromosomal mutagenesis

    International Nuclear Information System (INIS)

    Ganassi, E.Eh.; Zaichkina, S.I.; Malakhova, L.V.

    1987-01-01

    Precise quantitative correlation between the yield of chromosome structure damages and the yield of DNA damages is shown when comparing data on molecular and cytogenetic investigations carried out in cultural Mammalia cells. As the chromosome structure damage is to be connected with the damage of its carcass structure, then it is natural that DNA damage in loop regions is not to affect considerably the structure, while DNA damage lying on the loop base and connected with the chromosome carcass is to play a determining role in chromosomal mutagenesis. This DNA constitutes 1-2% from the total quantity of nuclear DNA. If one accepts that damages of these regions of DNA are ''hot'' points of chromosomal mutagenesis, then it becomes clear why 1-2% of preparation damages in a cell are realized in chromosome structural damages

  20. Therapeutic termination of second trimester pregnancies with low dose misoprostol

    International Nuclear Information System (INIS)

    Liaquat, N.F.; Javed, I.; Shuja, S.; Shoaib, T.; Bano, K.; Waheed, S.; Ansar, A.

    2006-01-01

    To determine the effectiveness of 50 micro g misoprostol for midtrimester termination of pregnancies. The study subjects were 54 pregnant women admitted during the 2nd trimester (14-26 weeks) of gestation, willing or requiring termination of pregnancy. Those patients were included in the study who were admitted with closed cervical os, either had intrauterine death, fetal anomaly, medical disorder (hypertension or diabetes) or history of previous ceasrean section. Cases of placenta previa, acute asthma, glaucoma, cardiac diseases and allergy to prostaglandins were excluded. Each patient received 50 micro g misoprostol intravaginally. Maximum 4 doses were given at 4 hours interval and state of cervical os was assessed by vaginal examination before insertion of next dose or at the onset of uterine contractions. After 4 doses of misoprostol, patients were kept under observation and watched for uterine contractions to start or for expulsion of products. Syntocinon infusion was started to augment labour where products of conception failed to expel out inspite of open os. Outcome measures include success rate of termination within 12, 24, 36 and 48 hours, mean induction - abortion time interval and maternal side effects. Results: The success rate of termination within 12, 24, 36 and 48 hours were 27.7%, 83.3%, 94.4% and 96.3% respectively. Mean induction to abortion time interval, in case of abortion within 48 hours, was found to be 18.9 +- 11.58 (range 4-48 hours). Dead fetuses were aborted earlier than alive fetuses. The mean induction abortion time interval was 17.01+-8.7 hours in dead and 23.4 +- 15.9 hours in alive fetuses (t -value:1.9, p: 0.05). Two patients failed to deliver within 48 hours of induction. Two patients suffered from febrile illness. Vaginal administration of 50 micro g misoprostol every 4 hourly is an effective and safe agent for ripening of cervix and convenient way of inducing abortion during 2nd trimester of pregnancy in a women either with

  1. Analysis of the origin of the extra chromosome in trisomy 8 in 4 cases of spontaneous abortions.

    Science.gov (United States)

    Nicolaidis, P; von Beust, G; Bugge, M; Karadima, G; Vassilopoulos, D; Brøndum-Nielsen, K; Petersen, M B

    1998-01-01

    To determine the origin of the extra chromosome in trisomy 8 in spontaneous abortions. We analyzed 4 cases of nonmosaic trisomy 8 in 1st-trimester spontaneous abortions and their parents with DNA polymorphism analysis using microsatellite DNA markers. In 3 cases the extra chromosome was maternal in origin and in 1 case paternal in origin. In 2 of the cases the nondisjunction had occurred in maternal meiosis, while the other 2 cases were consistent with a postzygotic (mitotic) origin of the additional chromosome. Although a small number of cases studied, these results suggest differences from the common autosomal trisomies 21, 18, 16, and 13 where the vast majority of cases are due to errors in maternal meiosis.

  2. X chromosome and suicide.

    Science.gov (United States)

    Fiori, L M; Zouk, H; Himmelman, C; Turecki, G

    2011-02-01

    Suicide completion rates are significantly higher in males than females in most societies. Although gender differences in suicide rates have been partially explained by environmental and behavioral factors, it is possible that genetic factors, through differential expression between genders, may also help explain gender moderation of suicide risk. This study investigated X-linked genes in suicide completers using a two-step strategy. We first took advantage of the genetic structure of the French-Canadian population and genotyped 722 unrelated French-Canadian male subjects, of whom 333 were suicide completers and 389 were non-suicide controls, using a panel of 37 microsatellite markers spanning the entire X chromosome. Nine haplotype windows and several individual markers were associated with suicide. Significant results aggregated primarily in two regions, one in the long arm and another in the short arm of chromosome X, limited by markers DXS8051 and DXS8102, and DXS1001 and DXS8106, respectively. The second stage of the study investigated differential brain expression of genes mapping to associated regions in Brodmann areas 8/9, 11, 44 and 46, in an independent sample of suicide completers and controls. Six genes within these regions, Rho GTPase-activating protein 6, adaptor-related protein complex 1 sigma 2 subunit, glycoprotein M6B, ribosomal protein S6 kinase 90  kDa polypeptide 3, spermidine/spermine N(1)-acetyltransferase 1 and THO complex 2, were found to be differentially expressed in suicide completers.

  3. Chromosome Connections: Compelling Clues to Common Ancestry

    Science.gov (United States)

    Flammer, Larry

    2013-01-01

    Students compare banding patterns on hominid chromosomes and see striking evidence of their common ancestry. To test this, human chromosome no. 2 is matched with two shorter chimpanzee chromosomes, leading to the hypothesis that human chromosome 2 resulted from the fusion of the two shorter chromosomes. Students test that hypothesis by looking for…

  4. New Y chromosomes and early stages of sex chromosome ...

    Indian Academy of Sciences (India)

    2010-09-06

    Sep 6, 2010 ... chromosomes are evolutionary consequences of that func- tion. Given sufficient ... (for a review, see Charlesworth et al. 2005). ... In the present paper, I review sex deter- mination .... part had apparently been exchanged against the homologous ... age group III-Y chromosomes were successful while in well-.

  5. Pure chromosome-specific PCR libraries from single sorted chromosomes

    NARCIS (Netherlands)

    VanDevanter, D. R.; Choongkittaworn, N. M.; Dyer, K. A.; Aten, J. A.; Otto, P.; Behler, C.; Bryant, E. M.; Rabinovitch, P. S.

    1994-01-01

    Chromosome-specific DNA libraries can be very useful in molecular and cytogenetic genome mapping studies. We have developed a rapid and simple method for the generation of chromosome-specific DNA sequences that relies on polymerase chain reaction (PCR) amplification of a single flow-sorted

  6. Intravenous amino acids in third trimester isolated oligohydramnios

    International Nuclear Information System (INIS)

    Qureshi, F.U.

    2011-01-01

    To determine the efficacy of maternal administration of intravenous amino acid solution in improving amniotic fluid volume in cases of isolated oligohydramnios and to observe its impact on mode of delivery and neonatal outcome. Study Design: A prospective case series. Methodology: Forty two women with singleton pregnancy, well established gestational age and clinically and sonographically proven isolated oligohydramnios in the third trimester before 36 weeks were administered amino acid solution intravenously after excluding cases of premature rupture of membranes, congenital anomaly of fetus, maternal pulmonary, cardiovascular and hypertensive disorders, and severe placental insufficiency (raised S/D ratio). Pre-infusion and postinfusion Amniotic fluid Index (AFI) was measured and repeated weekly. Women were followed till delivery. Results: According to repeated measurement analysis of variance, mean pre-infusion AFI was 4.7 cm, mean one week postinfusion AFI was 5.8 cm, mean two week post-infusion AFI was 6.2 cm and mean three week AFI was 6.3 cm (p-value 0.029, significant). Cesarean section became a predominant mode of delivery in this group without a firm evidence of associated fetal compromise. Conclusion: Amino acid infusion is an effective therapy for raising AFI in isolated oligohydramnios in this case series. Liberal use of cesarean section in this selected group should be carefully re-evaluated. (author)

  7. Subclinical hypothyroidism in the first trimester of pregnancy in North India

    Directory of Open Access Journals (Sweden)

    Jubbin Jagan Jacob

    2013-01-01

    Full Text Available Subclinical hypothyroidism based on population and trimester specific cut-offs is reported to complicate 1-2% of all pregnancies. Using the recent Endocrine Society guidelines of 2.5 mIU/L of Thyroid Stimulating Hormone as the upper level of normal in the first trimester the reported prevalence of subclinical hypothyroidism is much higher. Recent publications have also emphasized that there is considerable racial variation in the prevalence of thyroid disorders in pregnancy. Among published literature North Indian women appear to have the highest rates of subclinical hypothyroidism in the first trimester of pregnancy. More widespread use of universal screening and trimester specific ranges in pregnancy for thyroid hormonal assays will lead to a large number of North Indian women requiring treatment for thyroid disorders in pregnancy.

  8. First trimester diagnosis of sirenomelia: a case report and review of the literature.

    Science.gov (United States)

    Akbayir, Ozgur; Gungorduk, Kemal; Sudolmus, Sinem; Gulkilik, Ahmet; Ark, Cemal

    2008-12-01

    Sirenomelia sequence is a rare lethal pattern of congenital anomalies characterized by a number of hallmark skeletal anomalies, including fusion of the lower extremities or a single lower limb, bilateral renal agenesis or dysgenesis with absent or hypoplastic renal arteries, oligohydramnios, and the presence of aberrant vasculature. The etiology is still controversial. Prognosis is very poor, with the babies being stillborn or succumbing soon after birth. In the second trimester, oligohydramnios due to renal agenesis makes the diagnosis of sirenomelia difficult. Conversely, in the first trimester, the amniotic fluid volume is usually normal, unrelated to the fetal urine production. Therefore, a first-trimester or early second trimester anatomic survey of the fetus is proposed as preferable and more accurate for the diagnosis of this rare anomaly. In this article, we report a case of sirenomelia detected by two- and three-dimensional ultrasound in the 11th week of gestation and the associated literature is discussed.

  9. First-Trimester Working Conditions and Birthweight: A Prospective Cohort Study

    NARCIS (Netherlands)

    Vrijkotte, Tanja G. M.; van der Wal, Marcel F.; van Eijsden, Manon; Bonsel, Gouke J.

    2009-01-01

    Objectives. We investigated the relationship between women's first-trimester working conditions and infant birthweight. Methods. Pregnant women (N=8266) participating in the Amsterdam Born Children and Their Development study completed a questionnaire gathering information on employment and working

  10. Reassignment of Drosophila willistoni Genome Scaffolds to Chromosome II Arms.

    Science.gov (United States)

    Garcia, Carolina; Delprat, Alejandra; Ruiz, Alfredo; Valente, Vera L S

    2015-10-04

    Drosophila willistoni is a geographically widespread Neotropical species. The genome of strain Gd-H4-1 from Guadeloupe Island (Caribbean) was sequenced in 2007 as part of the 12 Drosophila Genomes Project. The assembled scaffolds were joined based on conserved linkage and assigned to polytene chromosomes based on a handful of genetic and physical markers. This paucity of markers was particularly striking in the metacentric chromosome II, comprised two similarly sized arms, IIL and IIR, traditionally considered homologous to Muller elements C and B, respectively. In this paper we present the cytological mapping of 22 new gene markers to increase the number of markers mapped by in situ hybridization and to test the assignment of scaffolds to the polytene chromosome II arms. For this purpose, we generated, by polymerase chain reaction amplification, one or two gene probes from each scaffold assigned to the chromosome II arms and mapped these probes to the Gd-H4-1 strain's polytene chromosomes by nonfluorescent in situ hybridization. Our findings show that chromosome arms IIL and IIR correspond to Muller elements B and C, respectively, directly contrasting the current homology assignments in D. willistoni and constituting a major reassignment of the scaffolds to chromosome II arms. Copyright © 2015 Garcia et al.

  11. Recruitment of healthy first-trimester pregnant women: lessons from the Chemicals, Health & Pregnancy study (CHirP).

    Science.gov (United States)

    Webster, Glenys M; Teschke, Kay; Janssen, Patricia A

    2012-02-01

    To describe and evaluate recruitment techniques used to enroll 152 healthy pregnant women fewer than 15 weeks gestation into a prospective study of environmental chemical exposure during pregnancy. Posters, a website, online and print advertising, recruitment emails, media coverage, recruitment from clinic waiting rooms, networking within the pregnancy community and presenting a study booth at baby "trade shows" were used to advertise the study. Participants had to meet a strict set of eligibility criteria, and were asked to donate two-second-trimester blood samples, complete two questionnaires, have samples of air, dust, lint and tap water collected from their homes, and donate a cord blood sample at delivery. Over 17 months, 171 women enrolled (49% of initial contacts, and 99% of all eligible women) and 152 women completed the study (89% retention). Total recruitment costs were approximately $400 Cdn per final participant. Posters, study booth presentations and online advertising generated the most inquiries about the study. Word of mouth, referral from another study and direct email were the most cost-effective strategies. Not surprisingly, the recruited study population was less ethnically diverse, more affluent and more educated than the background population of pregnant women in Vancouver. A combination of passive and active recruitment techniques were successful for recruiting healthy women in roughly the first trimester of pregnancy (<15 weeks gestation). While a convenience sample of women is suitable for our study questions, additional strategies may be required to recruit a more representative pregnant population in future studies.

  12. Auditing fetal nasal bone images in the first trimester of pregnancy: results from a peer review program.

    Science.gov (United States)

    Palermo, Fernanda Gasparin; Albuquerque, Débora de Paula Soares de Medeiros; Martins, Wellington P; Araujo Júnior, Edward; Bruns, Rafael Frederico

    2016-09-01

    To establish a structured review process to facilitate the identification of the fetal nasal bone (NB) in the first trimester ultrasound scan to improve the quality images. We conducted a retrospective observational study in fetal NB images obtained during ultrasound exams of singleton pregnancies that underwent first trimester screening (crown-rump length 45-84 mm). When the images were obtained the examiner was not aware of the study. Audit was conducted by an examiner according criteria established by the Fetal Medicine Foundation. Fetal NB images were assessed regarding adequate magnification, mid-sagittal view and transducer held parallel to the direction of the nose. The transvaginal and transabdominal as well as anterior and posterior fetal back groups were compared using χ(2) test. We considered 874 fetal NB images for auditing. Fetal NB was considered present in 865 images (99%). During the audit process, we identified 72 (8.2%) cases of disagreement between examiner and auditor assessments. Disagreement was higher when image quality was poor (62 cases = 7%). Transvaginal approach performed better in the following criteria: adequate magnification (p audit program for fetal NB is feasible in a clinical scenario. Image quality appears to play an important role in compliance to image standards audited and in agreement between examiner and auditor.

  13. Normative Trimester-Specific Thyroid Function Data from India: The State of the Nation

    OpenAIRE

    Subramanian Kannan; Sanjay Kalra

    2018-01-01

    Background: International guidelines recommend using local trimester-specific normative data for TSH (thyroid stimulating hormone). However, there are no unified Indian data for the same. Material and Methods: This review collates recently published data from various Indian centres and discusses the state of trimester-specific TSH ranges in the country. Results: The authors describe the strengths and limitations of available data, and support the need for pan-India data. Conclusion: To ensure...

  14. COMPARISON OF MISOPROSTOL AND MISOPROSTOL WITH ISOSORBIDE MONONITRATE IN SECOND TRIMESTER TERMINATION OF PREGNANCY

    OpenAIRE

    Shanthi Sivakumar; Nalina. S; Rukkayal Fathima; Rekha Radha

    2016-01-01

    BACKGROUND To compare the efficacy and side effect profile of vaginal misoprostol versus misoprostol and isosorbide mononitrate in enhancing cervical ripening in second trimester pregnancy termination. METHODS It is a random clinical trial done in 100 patients for mid trimester termination of pregnancy (between 12 and 24 weeks of gestational age). They were divided into two groups: Group A Combination of 400 mcg of misoprostol and 40 mg of ISMN placed intravaginally. Repe...

  15. Prevalence and risk factors for urinary incontinence in pregnant women during late third trimester

    OpenAIRE

    Aruna Nigam; Ayesha Ahmad; Diksha Gaur; Arifa A. Elahi; Swaraj Batra

    2016-01-01

    Background: Urinary incontinence (UI) is defined as any involuntary urinary leakage by the International continence society (ICS). The objective of this study was to analyze the prevalence and risk factors of urinary incontinence in pregnant women in late third trimester. Methods: A questionnaire based survey done on 400 pregnant women in third trimester beyond 34 weeks of gestation. A pretested, semi structured questionnaire was used to enquire about demographic and personal information r...

  16. Hubungan Pengetahuan Ibu Hamil Trimester III Tentang Gizi Seimbang Selama Hamil Dengan Kejadian Bblr

    OpenAIRE

    Woro Tri Utami, Woro Tri Utami; Waqidil Hidayah, Waqidil Hidayah; Ika Junita, Ika Junita

    2013-01-01

    Knowledge of mothers on nutrition is crucial to the future of children and families. The purpose of the study to analyze the relationship of knowledge maternal 3rd trimester about balanced diet for pregnant with BBLR incident . Survey design used analytic approaches Prospective ( Cohort ) , sampling techniques using simple random sampling . Independent Variable knowledge maternal 3rd trimester about balanced nutrition and dependent variable BBLR incident . Instrument research questionnaires a...

  17. Medical treatment of second-trimester fetal miscarriage; A retrospective analysis

    OpenAIRE

    Niinimaki, Maarit; Mentula, Maarit; Jahangiri, Reetta; Mannisto, Jaana; Haverinen, Annina; Heikinheimo, Oskari

    2017-01-01

    Abstract Objectives: Research on the treatment of second-trimester miscarriages is scarce. We studied the outcomes, and the factors associated with adverse events and need for hospital resources in the medical treatment of second-trimester miscarriage. Materials and methods: In these retrospective analyses we studied women treated for spontaneous fetal miscarriage with misoprostol-only (n = 24) or mifepristone and misoprostol (n = 177) in duration of gestation 12+1–21+6. Primary outcome...

  18. Ultrasound detection of placenta accreta in the first trimester of pregnancy

    OpenAIRE

    Fatemeh Rahimi-Sharbaf; Ashraf Jamal; Elaheh Mesdaghinia; Masoumeh Abedzadeh- Kalahroudi; Shirin Niroomanesh; Fatemeh Atoof

    2014-01-01

    Background: Placenta accreta is considered a life-threatening condition and the main cause of maternal mortality. Prenatal diagnosis of placenta accreta usually is made by clinical presentation, imaging studies like ultrasound and MRI in the second and third trimester. Objective: To determine accuracy of ultrasound findings for placenta accreta in the first trimester of pregnancy. Materials and Methods: In a longitudinal study 323 high risk patients for placenta accreta were assessed. The eli...

  19. Accompaniment of second-trimester abortions: the model of the feminist Socorrista network of Argentina.

    Science.gov (United States)

    Zurbriggen, Ruth; Keefe-Oates, Brianna; Gerdts, Caitlin

    2018-02-01

    Legal restrictions on abortion access impact the safety and timing of abortion. Women affected by these laws face barriers to safe care that often result in abortion being delayed. Second-trimester abortion affects vulnerable groups of women disproportionately and is often more difficult to access. In Argentina, where abortion is legally restricted except in cases of rape or threat to the health of the woman, the Socorristas en Red, a feminist network, offers a model of accompaniment wherein they provide information and support to women seeking second-trimester abortions. This qualitative analysis aimed to understand Socorristas' experiences supporting women who have second-trimester medication abortion outside the formal health care system. We conducted 2 focus groups with 16 Socorristas in total to understand experiences accompanying women having second-trimester medication abortion who were at 14-24 weeks' gestational age. We performed a thematic analysis of the data and present key themes in this article. The Socorristas strived to ensure that women had the power of choice in every step of their abortion. These cases required more attention and logistical, legal and medical risks than first-trimester care. The Socorristas learned how to help women manage the possibility of these risks and were comfortable providing this support. They understood their work as activism through which they aim to destigmatize abortion and advocate against patriarchal systems denying the right to abortion. Socorrista groups have shown that they can provide supportive, women-centered accompaniment during second-trimester medication abortions outside the formal health care system in a setting where abortion access is legally restricted. Second-trimester self-use of medication abortion outside of the formal health system supported by feminist activist groups could provide an alternative model for second-trimester care worldwide. More research is needed to document the safety and

  20. Cohesin in determining chromosome architecture

    Energy Technology Data Exchange (ETDEWEB)

    Haering, Christian H., E-mail: christian.haering@embl.de [Cell Biology and Biophysics Unit, European Molecular Biology Laboratory (EMBL), Heidelberg (Germany); Jessberger, Rolf, E-mail: rolf.jessberger@tu-dresden.de [Institute of Physiological Chemistry, Dresden University of Technology, Dresden (Germany)

    2012-07-15

    Cells use ring-like structured protein complexes for various tasks in DNA dynamics. The tripartite cohesin ring is particularly suited to determine chromosome architecture, for it is large and dynamic, may acquire different forms, and is involved in several distinct nuclear processes. This review focuses on cohesin's role in structuring chromosomes during mitotic and meiotic cell divisions and during interphase.

  1. Sex chromosomes in Ephestia kuehniella

    Czech Academy of Sciences Publication Activity Database

    Marec, František; Sahara, K.; Traut, W.

    2001-01-01

    Roč. 44, č. 1 (2001), s. 131 ISSN 0003-3995. [European Cytogenetics Conference /3./. 07.07.2001-10.07.2001, Paris] Institutional research plan: CEZ:AV0Z5007907 Keywords : Telomere * sex chromosomes * chromosome fragments Subject RIV: EB - Genetics ; Molecular Biology

  2. Slit scan flow cytometry of isolated chromosomes following fluorescence hybridization: an approach of online screening for specific chromosomes and chromosome translocations

    NARCIS (Netherlands)

    Hausmann, M.; Dudin, G.; Aten, J. A.; Heilig, R.; Diaz, E.; Cremer, C.

    1991-01-01

    The recently developed methods of non radioactive in situ hybridization of chromosomes offer new aspects for chromosome analysis. Fluorescent labelling of hybridized chromosomes or chromosomal subregions allows to facilitate considerably the detection of specific chromosomal abnormalities. For many

  3. Ankle Proprioception Pattern in Women Across Various Trimesters of Pregnancy and Postpartum

    Directory of Open Access Journals (Sweden)

    Ramachandra P

    2016-01-01

    Full Text Available Background and Objectives: Ankle foot complex is the part of the body which is in contact with the ground and it is important to have an intact proprioceptive system in order to maintain postural control. Previous study has established that there is significant difference between ankle proprioception in pregnant women in their third trimester and non-pregnant women. There is lack of literature regarding when the ankle does the ankle proprioception gets affected during pregnancy and whether this change reverts back during postpartum and hence this study. Method: A cohort of 70 primiparous women were included in the study and the women were followed through 12th week, 24th week, 32nd week , immediate postpartum and 6 weeks postpartum. The ankle repositioning error was measured using photography method and was analyzed using UTHSCSA Image tool software. Repeated measures ANOVA was used to measure the differences across various time periods. Results: It was found that there was a significant differences (p<0.001 in ankle repositioning error in pregnant women across the trimesters and in the postpartum period and the value did not reach the first trimester value even after six weeks postpartum. Conclusion: Ankle proprioception was significantly affected across the various trimesters of pregnancy with the peak variability observed in the third trimester and the value did not reach back to the first trimester value even after 6 weeks postpartum.

  4. An analysis of posture and back pain in the first and third trimesters of pregnancy.

    Science.gov (United States)

    Franklin, M E; Conner-Kerr, T

    1998-09-01

    While the incidence of back pain during pregnancy has been shown to be high, few studies have investigated postural changes that occur during pregnancy and their relationship to back pain. The purpose of this study was to determine if posture and back pain changed from the first to the third trimester of pregnancy and whether there was a relationship between the two. Twelve healthy women who were having uncomplicated pregnancies participated in the study. During the first and third trimesters, each subject had their standing posture and back pain assessed by a Metrecom Skeletal Analysis System and a 0- to 10-cm line pain scale, respectively. Repeated measures analysis of variance and Pearson correlation coefficients were calculated on or between back pain and nine posture variables and revealed significant increases in third trimester back pain and postures compared with first trimester back pain (p postures for lumbar angle (p change in posture and back pain. These results suggest that in the standing position the lumbar lordosis and sagittal pelvic tilt increased and head position become more posterior as women progressed from the first trimester to the last trimester of pregnancy. These postural changes, however, were not related to back pain. This suggests that many of the posture-correcting clinical exercise regimens given to pregnant women need to be investigated.

  5. Caenorhabditis elegans histone methyltransferase MET-2 shields the male X chromosome from checkpoint machinery and mediates meiotic sex chromosome inactivation.

    Directory of Open Access Journals (Sweden)

    Paula M Checchi

    2011-09-01

    Full Text Available Meiosis is a specialized form of cellular division that results in the precise halving of the genome to produce gametes for sexual reproduction. Checkpoints function during meiosis to detect errors and subsequently to activate a signaling cascade that prevents the formation of aneuploid gametes. Indeed, asynapsis of a homologous chromosome pair elicits a checkpoint response that can in turn trigger germline apoptosis. In a heterogametic germ line, however, sex chromosomes proceed through meiosis with unsynapsed regions and are not recognized by checkpoint machinery. We conducted a directed RNAi screen in Caenorhabditis elegans to identify regulatory factors that prevent recognition of heteromorphic sex chromosomes as unpaired and uncovered a role for the SET domain histone H3 lysine 9 histone methyltransferase (HMTase MET-2 and two additional HMTases in shielding the male X from checkpoint machinery. We found that MET-2 also mediates the transcriptional silencing program of meiotic sex chromosome inactivation (MSCI but not meiotic silencing of unsynapsed chromatin (MSUC, suggesting that these processes are distinct. Further, MSCI and checkpoint shielding can be uncoupled, as double-strand breaks targeted to an unpaired, transcriptionally silenced extra-chromosomal array induce checkpoint activation in germ lines depleted for met-2. In summary, our data uncover a mechanism by which repressive chromatin architecture enables checkpoint proteins to distinguish between the partnerless male X chromosome and asynapsed chromosomes thereby shielding the lone X from inappropriate activation of an apoptotic program.

  6. Schizophrenia and chromosomal deletions

    Energy Technology Data Exchange (ETDEWEB)

    Lindsay, E.A.; Baldini, A. [Baylor College of Medicine, Houston, TX (United States); Morris, M. A. [Univ. of Geneva School of Medicine, NY (United States)] [and others

    1995-06-01

    Recent genetic linkage analysis studies have suggested the presence of a schizophrenia locus on the chromosomal region 22q11-q13. Schizophrenia has also been frequently observed in patients affected with velo-cardio-facial syndrome (VCFS), a disorder frequently associated with deletions within 22q11.1. It has been hypothesized that psychosis in VCFS may be due to deletion of the catechol-o-methyl transferase gene. Prompted by these observations, we screened for 22q11 deletions in a population of 100 schizophrenics selected from the Maryland Epidemiological Sample. Our results show that there are schizophrenic patients carrying a deletion of 22q11.1 and a mild VCFS phenotype that might remain unrecognized. These findings should encourage a search for a schizophrenia-susceptibility gene within the deleted region and alert those in clinical practice to the possible presence of a mild VCFS phenotype associated with schizophrenia. 9 refs.

  7. Permissive cytomegalovirus infection of primary villous term and first trimester trophoblasts.

    Science.gov (United States)

    Hemmings, D G; Kilani, R; Nykiforuk, C; Preiksaitis, J; Guilbert, L J

    1998-06-01

    Forty percent of women with primary cytomegalovirus (CMV) infections during pregnancy infect their fetuses with complications for the baby varying from mild to severe. How CMV crosses the syncytiotrophoblast, the barrier between maternal blood and fetal tissue in the villous placenta, is unknown. Virus may cross by infection of maternal cells that pass through physical breaches in the syncytiotrophoblast or by direct infection of the syncytiotrophoblast, with subsequent transmission to underlying fetal placental cells. In this study, we show that pure (>99.99%), long-term and healthy (>3 weeks) cultures of syncytiotrophoblasts are permissively infected with CMV. Greater than 99% of infectious progeny virus remained cell associated throughout culture periods up to 3 weeks. Infection of term trophoblasts required a higher virus inoculum, was less efficient, and progressed more slowly than parallel infections of placental and human embryonic lung fibroblasts. Three laboratory strains (AD169, Towne, and Davis) and a clinical isolate from a congenitally infected infant all permissively infected trophoblasts, although infection efficiencies varied. The infection of first trimester syncytiotrophoblasts with strain AD169 occurred at higher frequency and progressed more rapidly than infection of term cells but less efficiently and rapidly than infection of fibroblasts. These results show that villous syncytiotrophoblasts can be permissively infected by CMV but that the infection requires high virus titers and proceeds slowly and that progeny virus remains predominantly cell associated.

  8. Somatic association of telocentric chromosomes carrying homologous centromeres in common wheat.

    Science.gov (United States)

    Mello-Sampayo, T

    1973-01-01

    Measurements of distances between telocentric chromosomes, either homologous or representing the opposite arms of a metacentric chromosome (complementary telocentrics), were made at metaphase in root tip cells of common wheat carrying two homologous pairs of complementary telocentrics of chromosome 1 B or 6 B (double ditelosomic 1 B or 6 B). The aim was to elucidate the relative locations of the telocentric chromosomes within the cell. The data obtained strongly suggest that all four telocentrics of chromosome 1 B or 6 B are spacially and simultaneously co-associated. In plants carrying two complementary (6 B (S) and 6 B (L)) and a non-related (5 B (L)) telocentric, only the complementary chromosomes were found to be somatically associated. It is thought, therefore, that the somatic association of chromosomes may involve more than two chromosomes in the same association and, since complementary telocentrics are as much associated as homologous, that the homology between centromeres (probably the only homologous region that exists between complementary telocentrics) is a very important condition for somatic association of chromosomes. The spacial arrangement of chromosomes was studied at anaphase and prophase and the polar orientation of chromosomes at prophase was found to resemble anaphase orientation. This was taken as good evidence for the maintenance of the chromosome arrangement - the Rabl orientation - and of the peripheral location of the centromere and its association with the nuclear membrane. Within this general arrangement homologous telocentric chromosomes were frequently seen to have their centromeres associated or directed towards each other. The role of the centromere in somatic association as a spindle fibre attachment and chromosome binder is discussed. It is suggested that for non-homologous chromosomes to become associated in root tips, the only requirement needed should be the homology of centromeres such as exists between complementary

  9. Psychological responses of women after first-trimester abortion.

    Science.gov (United States)

    Major, B; Cozzarelli, C; Cooper, M L; Zubek, J; Richards, C; Wilhite, M; Gramzow, R H

    2000-08-01

    Controversy exists over psychological risks associated with abortion. The objectives of this study were to examine women's emotions, evaluations, and mental health after an abortion, as well as changes over time in these responses and their predictors. Women arriving at 1 of 3 sites for an abortion of a first-trimester unintended pregnancy were randomly approached to participate in a longitudinal study with 4 assessments-1 hour before the abortion, and 1 hour, 1 month, and 2 years after the abortion. Eight hundred eighty-two (85%) of 1043 eligible women approached agreed; 442 (50%) of 882 were followed for 2 years. Preabortion and postabortion depression and self-esteem, postabortion emotions, decision satisfaction, perceived harm and benefit, and posttraumatic stress disorder were assessed. Demographic variables and prior mental health were examined as predictors of postabortion psychological responses. Two years postabortion, 301 (72%) of 418 women were satisfied with their decision; 306 (69%) of 441 said they would have the abortion again; 315 (72%) of 440 reported more benefit than harm from their abortion; and 308 (80%) of 386 were not depressed. Six (1%) of 442 reported posttraumatic stress disorder. Depression decreased and self-esteem increased from preabortion to postabortion, but negative emotions increased and decision satisfaction decreased over time. Prepregnancy history of depression was a risk factor for depression, lower self-esteem, and more negative abortion-specific outcomes 2 years postabortion. Younger age and having more children preabortion also predicted more negative abortion evaluations. Most women do not experience psychological problems or regret their abortion 2 years postabortion, but some do. Those who do tend to be women with a prior history of depression.

  10. Mitotic chromosome condensation in vertebrates

    International Nuclear Information System (INIS)

    Vagnarelli, Paola

    2012-01-01

    Work from several laboratories over the past 10–15 years has revealed that, within the interphase nucleus, chromosomes are organized into spatially distinct territories [T. Cremer, C. Cremer, Chromosome territories, nuclear architecture and gene regulation in mammalian cells, Nat. Rev. Genet. 2 (2001) 292–301 and T. Cremer, M. Cremer, S. Dietzel, S. Muller, I. Solovei, S. Fakan, Chromosome territories—a functional nuclear landscape, Curr. Opin. Cell Biol. 18 (2006) 307–316]. The overall compaction level and intranuclear location varies as a function of gene density for both entire chromosomes [J.A. Croft, J.M. Bridger, S. Boyle, P. Perry, P. Teague,W.A. Bickmore, Differences in the localization and morphology of chromosomes in the human nucleus, J. Cell Biol. 145 (1999) 1119–1131] and specific chromosomal regions [N.L. Mahy, P.E. Perry, S. Gilchrist, R.A. Baldock, W.A. Bickmore, Spatial organization of active and inactive genes and noncoding DNA within chromosome territories, J. Cell Biol. 157 (2002) 579–589] (Fig. 1A, A'). In prophase, when cyclin B activity reaches a high threshold, chromosome condensation occurs followed by Nuclear Envelope Breakdown (NEB) [1]. At this point vertebrate chromosomes appear as compact structures harboring an attachment point for the spindle microtubules physically recognizable as a primary constriction where the two sister chromatids are held together. The transition from an unshaped interphase chromosome to the highly structured mitotic chromosome (compare Figs. 1A and B) has fascinated researchers for several decades now; however a definite picture of how this process is achieved and regulated is not yet in our hands and it will require more investigation to comprehend the complete process. From a biochemical point of view a vertebrate mitotic chromosomes is composed of DNA, histone proteins (60%) and non-histone proteins (40%) [6]. I will discuss below what is known to date on the contribution of these two different

  11. Mitotic chromosome condensation in vertebrates

    Energy Technology Data Exchange (ETDEWEB)

    Vagnarelli, Paola, E-mail: P.Vagnarelli@ed.ac.uk

    2012-07-15

    Work from several laboratories over the past 10-15 years has revealed that, within the interphase nucleus, chromosomes are organized into spatially distinct territories [T. Cremer, C. Cremer, Chromosome territories, nuclear architecture and gene regulation in mammalian cells, Nat. Rev. Genet. 2 (2001) 292-301 and T. Cremer, M. Cremer, S. Dietzel, S. Muller, I. Solovei, S. Fakan, Chromosome territories-a functional nuclear landscape, Curr. Opin. Cell Biol. 18 (2006) 307-316]. The overall compaction level and intranuclear location varies as a function of gene density for both entire chromosomes [J.A. Croft, J.M. Bridger, S. Boyle, P. Perry, P. Teague,W.A. Bickmore, Differences in the localization and morphology of chromosomes in the human nucleus, J. Cell Biol. 145 (1999) 1119-1131] and specific chromosomal regions [N.L. Mahy, P.E. Perry, S. Gilchrist, R.A. Baldock, W.A. Bickmore, Spatial organization of active and inactive genes and noncoding DNA within chromosome territories, J. Cell Biol. 157 (2002) 579-589] (Fig. 1A, A'). In prophase, when cyclin B activity reaches a high threshold, chromosome condensation occurs followed by Nuclear Envelope Breakdown (NEB) [1]. At this point vertebrate chromosomes appear as compact structures harboring an attachment point for the spindle microtubules physically recognizable as a primary constriction where the two sister chromatids are held together. The transition from an unshaped interphase chromosome to the highly structured mitotic chromosome (compare Figs. 1A and B) has fascinated researchers for several decades now; however a definite picture of how this process is achieved and regulated is not yet in our hands and it will require more investigation to comprehend the complete process. From a biochemical point of view a vertebrate mitotic chromosomes is composed of DNA, histone proteins (60%) and non-histone proteins (40%) [6]. I will discuss below what is known to date on the contribution of these two different classes

  12. Gametocidal chromosomes enhancing chromosome aberration in common wheat induced by 5-azacytidine.

    Science.gov (United States)

    Su, W-Y; Cong, W-W; Shu, Y-J; Wang, D; Xu, G-H; Guo, C-H

    2013-07-08

    The gametocidal (Gc) chromosome from Aegilops spp induces chromosome mutation, which is introduced into common wheat as a tool of chromosome manipulation for genetic improvement. The Gc chromosome functions similar to a restriction-modification system in bacteria, in which DNA methylation is an important regulator. We treated root tips of wheat carrying Gc chromosomes with the hypomethylation agent 5-azacytidine; chromosome breakage and micronuclei were observed in these root tips. The frequency of aberrations differed in wheat containing different Gc chromosomes, suggesting different functions inducing chromosome breakage. Gc chromosome 3C caused the greatest degree of chromosome aberration, while Gc chromosome 3C(SAT) and 2C caused only slight chromosome aberration. Gc chromosome 3C induced different degrees of chromosome aberration in wheat varieties Triticum aestivum var. Chinese Spring and Norin 26, demonstrating an inhibition function in common wheat.

  13. The Effect of Ramadan Fasting On Neonatal Weight In Different Trimesters Of Pregnancy

    Directory of Open Access Journals (Sweden)

    nahid sarafraz

    2015-09-01

    Full Text Available Background and Objectives: several investigations have been done to evaluate the effect of Ramadan fasting on fetal and maternal health, which have all led to controversial results. The role of Ramadan fasting time in birth weight is still unclear. This study evaluated the effect of fasting at different periods of pregnancy on birth weight. Methods: 250 pregnant women fasting at least one day during Ramadan participated in this retrospective cohort study. Subjects were categorized into 3 groups, namely first trimester (n=112, second trimester (n=68 and third trimester (n=70 of pregnancy. Demographic and anthropometric data, obstetric history and history of Ramadan fasting were recorded. After delivery, neonatal birth weight was measured. The mean of weight and frequency of low birth weight in each group were calculated. Probable related factors of low birth weight of neonates with fasting mothers were evaluated. Results: The mean of birth weight in different groups of Ramadan fasting time in first, second and third trimester of pregnancy were 3411.52±529.88, 3214.57±463.56 and 3336.86±444.89 gr respectively, which had a statistically significant difference (p=0.03. Frequencies of low birth weight in different groups of Ramadan fasting time in first trimester was 8.9%, in second trimester 8.8% and in third trimester it was 7.1%, which had no statistically significant difference (p=0.9. Among all evaluated factors, only neonatal sex was related to low birth weight. Conclusion: Time of Ramadan fasting during pregnancy does not affect birth weight.

  14. The variability is in the sex chromosomes.

    Science.gov (United States)

    Reinhold, Klaus; Engqvist, Leif

    2013-12-01

    Sex differences in the mean trait expression are well documented, not only for traits that are directly associated with reproduction. Less is known about how the variability of traits differs between males and females. In species with sex chromosomes and dosage compensation, the heterogametic sex is expected to show larger trait variability ("sex-chromosome hypothesis"), yet this central prediction, based on fundamental genetic principles, has never been evaluated in detail. Here we show that in species with heterogametic males, male variability in body size is significantly larger than in females, whereas the opposite can be shown for species with heterogametic females. These results support the prediction of the sex-chromosome hypothesis that individuals of the heterogametic sex should be more variable. We argue that the pattern demonstrated here for sex-specific body size variability is likely to apply to any trait and needs to be considered when testing predictions about sex-specific variability and sexual selection. © 2013 The Author(s). Evolution © 2013 The Society for the Study of Evolution.

  15. Microdissection and molecular manipulation of single chromosomes in woody fruit trees with small chromosomes using pomelo (Citrus grandis) as a model. II. Cloning of resistance gene analogs from single chromosomes.

    Science.gov (United States)

    Huang, D; Wu, W; Lu, L

    2004-05-01

    Amplification of resistance gene analogs (RGAs) is both a useful method for acquiring DNA markers closely linked to disease resistance (R) genes and a potential approach for the rapid cloning of R genes in plants. However, the screening of target sequences from among the numerous amplified RGAs can be very laborious. The amplification of RGAs from specific chromosomes could greatly reduce the number of RGAs to be screened and, consequently, speed up the identification of target RGAs. We have developed two methods for amplifying RGAs from single chromosomes. Method 1 uses products of Sau3A linker adaptor-mediated PCR (LAM-PCR) from a single chromosome as the templates for RGA amplification, while Method 2 directly uses a single chromosomal DNA molecule as the template. Using a pair of degenerate primers designed on the basis of the conserved nucleotide-binding-site motifs in many R genes, RGAs were successfully amplified from single chromosomes of pomelo using both these methods. Sequencing and cluster analysis of RGA clones obtained from single chromosomes revealed the number, type and organization of R-gene clusters on the chromosomes. We suggest that Method 1 is suitable for analyzing chromosomes that are unidentifiable under a microscope, while Method 2 is more appropriate when chromosomes can be clearly identified.

  16. A Systematic Review on Normative Values of Trimester-specific Thyroid Function Tests in Indian Women.

    Science.gov (United States)

    Kannan, Subramanian; Mahadevan, Shriraam; Sigamani, Alben

    2018-01-01

    Small cross-sectional studies are published on the trimester-specific normal ranges of thyrotropin and thyroxine levels in Indian women from various parts of the country. We sought to review the published literature on thyroid function tests in normal pregnant Indian women to see if the pooled data from various studies can define normative data and hypothyroidism in pregnancy. We retrieved 56 studies from online databases with detailed search using multiple search terms. Unanimously eight studies were finalized. Data of 2703 pregnant women (age 16-45 years; 966 were in the first trimester, 1072 in their second trimester, and 1037 women in their third trimester) were analyzed. All eight studies included singleton pregnancies from the northern and eastern part of India with seven studies being cross-sectional in nature. The exclusion criteria in all studies included those with historical/clinical evidence of thyroid dysfunction, those with family history of thyroid dysfunction, infertility and those with history of recurrent miscarriages (usually >3). Ultrasound evidence of thyroid disease, urinary iodine assessment, and thyroid antibodies were included as additional exclusion criteria in two, three, and four studies, respectively. None of the studies included the outcome of pregnancy as part of follow-up. As part of the pooled data analysis, the 5 th -95 th centile values of normal TSH extended from 0.09 to 6.65 IU/mL in the first trimester, 0.39-6.61 IU/mL in the second trimester, and 0.70-5.18 IU/mL in the third trimester. The FT4 levels (5 th -95 th centile values) extended from 8.24 to 25.74 pmol/L in the first trimester, 6.82-26.0 pmol/L, and 5.18-25.61 pmol/L in the third trimester. With due limitations imposed by the quality of the available studies, the current review suggests that upper normal limit of TSH values can extend up to 5-6 IU/mL in pregnancy.

  17. Magnitude and determinants of inadequate third-trimester weight gain in rural Bangladesh.

    Science.gov (United States)

    Hasan, S M Tafsir; Rahman, Sabuktagin; Locks, Lindsey Mina; Rahman, Mizanur; Hore, Samar Kumar; Saqeeb, Kazi Nazmus; Khan, Md Alfazal; Ahmed, Tahmeed

    2018-01-01

    The objective of this study was to estimate the magnitude and determinants of inadequate weight gain in the third-trimester among rural women in Matlab, Bangladesh. The study analyzed data on weight gain in the third trimester in 1,883 pregnant women in Matlab, Bangladesh. All these women were admitted to Matlab hospital of the International Centre for Diarrhoeal Disease Research, Bangladesh (icddr,b) for childbirth during 2012-2014, and they had singleton live births at term. Data were retrieved from the electronic databases of Matlab Health and Demographic Surveillance System and Matlab hospital. A multivariable logistic regression for inadequate weight gain in the third trimester (≤4 kg) was built with sociodemographic, environmental and maternal factors as predictors. One thousand and twenty-six (54%) pregnant women had inadequate weight gain in the third trimester. In the multivariable model, short stature turned out to be the most robust risk factor for inadequate weight gain in the third trimester (OR = 2.5; 95% CI 1.8, 3.5 for short compared to tall women). Pre-third-trimester BMI was inversely associated with insufficient weight gain (OR = 0.96; 95% CI 0.93, 0.99 for 1 unit increase in BMI). Other risk factors for inadequate weight gain in the third trimester were advanced age (OR = 1.9; 95% CI 1.2, 3.1 for ≥35 years compared to ≤19 years), parity (OR = 1.5; 95% CI 1.2, 1.9 for multipara compared to nulliparous women), low socioeconomic status (OR = 1.7; 95% CI 1.2, 2.3 for women in the lowest compared to women in the highest wealth quintile), low level of education (OR = 1.6; 95% CI 1.2, 2.1 for ≤5 years compared to ≥10 years of education), belonging to the Hindu religious community (OR = 1.8; 95% CI 1.3, 2.5), consuming arsenic-contaminated water (OR = 1.4; 95% CI 1.1, 1.9), and conceiving during monsoon or dry season compared to summer (OR = 1.4; 95% CI 1.1, 1.8). Among rural Bangladeshi women in Matlab, third-trimester weight gain was in

  18. Chromosome fragility in Freemartin cattle

    Directory of Open Access Journals (Sweden)

    V. Barbieri

    2010-04-01

    Full Text Available The aim of the present study was to verify chromosome fragility in freemartin cattle using chromosome aberration (CA and sister chromatid exchange (SCE tests. A total of eighteen co-twins were investigated. Fourteen animals were identified as cytogenetically chimeric (2n=60, XX/XY while 4 were classified as normal. Freemartin cattle showed a higher percentage of aneuploid cells (18.64% and highly significant statistical differences (P < 0.001 in mean values of gaps (4.53 ± 2.05, chromatid breaks (0.26 ± 0.51, and significant statistical differences (P < 0.005 in mean values of chromosome breaks (0.12 ± 0.43 when compared to 10 control animals from single births (aneuploid cells, 11.20%; gaps, 2.01 ± 1.42; chromatid breaks, 0.05 ± 0.22; chromosome breaks, 0.02 ± 0.14.

  19. Are There Knots in Chromosomes?

    Directory of Open Access Journals (Sweden)

    Jonathan T. Siebert

    2017-08-01

    Full Text Available Recent developments have for the first time allowed the determination of three-dimensional structures of individual chromosomes and genomes in nuclei of single haploid mouse embryonic stem (ES cells based on Hi–C chromosome conformation contact data. Although these first structures have a relatively low resolution, they provide the first experimental data that can be used to study chromosome and intact genome folding. Here we further analyze these structures and provide the first evidence that G1 phase chromosomes are knotted, consistent with the fact that plots of contact probability vs sequence separation show a power law dependence that is intermediate between that of a fractal globule and an equilibrium structure.

  20. Flow cytogenetics and chromosome sorting.

    Science.gov (United States)

    Cram, L S

    1990-06-01

    This review of flow cytogenetics and chromosome sorting provides an overview of general information in the field and describes recent developments in more detail. From the early developments of chromosome analysis involving single parameter or one color analysis to the latest developments in slit scanning of single chromosomes in a flow stream, the field has progressed rapidly and most importantly has served as an important enabling technology for the human genome project. Technological innovations that advanced flow cytogenetics are described and referenced. Applications in basic cell biology, molecular biology, and clinical investigations are presented. The necessary characteristics for large number chromosome sorting are highlighted. References to recent review articles are provided as a starting point for locating individual references that provide more detail. Specific references are provided for recent developments.

  1. Sex chromosome repeats tip the balance towards speciation.

    Science.gov (United States)

    O'Neill, Michael J; O'Neill, Rachel J

    2018-04-06

    Because sex chromosomes, by definition, carry genes that determine sex, mutations that alter their structural and functional stability can have immediate consequences for the individual by reducing fertility, but also for a species by altering the sex ratio. Moreover, the sex-specific segregation patterns of heteromorphic sex chromosomes make them havens for selfish genetic elements that not only create sub-optimal sex ratios, but can also foster sexual antagonism. Compensatory mutations to mitigate antagonism or return sex ratios to a Fisherian optimum can create hybrid incompatibility and establish reproductive barriers leading to species divergence. The destabilizing influence of these selfish elements is often manifest within populations as copy number variants (CNVs) in satellite repeats and transposable elements (TE) or as CNVs involving sex determining genes, or genes essential to fertility and sex chromosome dosage compensation. This review catalogs several examples of well-studied sex chromosome CNVs in Drosophilids and mammals that underlie instances of meiotic drive, hybrid incompatibility and disruptions to sex differentiation and sex chromosome dosage compensation. While it is difficult to pinpoint a direct cause/effect relationship between these sex chromosome CNVs and speciation, it is easy to see how their effects in creating imbalances between the sexes, and the compensatory mutations to restore balance, can lead to lineage splitting and species formation. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  2. Neuroimaging parameters in early open spina bifida detection. Further benefit in first trimester screening?

    Science.gov (United States)

    Iliescu, D; Comănescu, A; Antsaklis, P; Tudorache, Stefania; Ghiluşi, Mirela; Comănescu, Violeta; Paulescu, Daniela; Ceauşu, Iuliana; Antsaklis, A; Novac, Liliana; Cernea, N

    2011-01-01

    Morphological investigation of the central nervous system (CNS) in fetuses with positive markers for open spina bifida (OSB) detection, visualized by ultrasound during the first trimester of pregnancy. Data from fetuses that underwent routine first trimester ultrasound scan in our center during September 2007-March 2011 and presented abnormal aspects of the fourth ventricle, also referred as intracranial translucency (IT), provided the morphological support to evaluate CNS features. A neuro-histological study of posterior cerebral fossa illustrated anatomical features of the structures involved in the sonographic first trimester detection of neural tube defects. Abnormal IT aspects were found in OSB cases examined in the first trimester, but also in other severe cerebral abnormalities. Brain stem antero-posterior diameter (BS) and brain stem to occipital bone (BSOB) ratio may be more specific for OSB detection. Correlations between histological aspects of posterior brain fossa and ultrasound standard assessment have been made; highlighting the anatomical features involved by the new techniques developed for OSB early detection. Preliminary results show that modern sonographic protocols are capable to detect abnormalities in the morphometry of the posterior brain. First trimester fourth ventricle abnormalities should be followed by careful CNS evaluation because are likely to appear in OSB affected fetuses, but also in other CNS severe anomalies; in such cases, normal BS and BSOB ratio may serve as indirect argument for spine integrity, if specificity is confirmed in large series of fetuses.

  3. Risk and uncertainty: shifting decision making for aneuploidy screening to the first trimester of pregnancy.

    Science.gov (United States)

    Farrell, Ruth M; Dolgin, Natasha; Flocke, Susan A; Winbush, Victoria; Mercer, Mary Beth; Simon, Christian

    2011-05-01

    The clinical introduction of first trimester aneuploidy screening uniquely challenges the informed consent process for both patients and providers. This study investigated key aspects of the decision-making process for this new form of prenatal genetic screening. Qualitative data were collected by nine focus groups that comprised women of different reproductive histories (N = 46 participants). Discussions explored themes regarding patient decision making for first trimester aneuploidy screening. Sessions were audio recorded, transcribed, coded, and analyzed to identify themes. Multiple levels of uncertainty characterize the decision-making process for first trimester aneuploidy screening. Baseline levels of uncertainty existed for participants in the context of an early pregnancy and the debate about the benefit of fetal genetic testing in general. Additional sources of uncertainty during the decision-making process were generated from weighing the advantages and disadvantages of initiating screening in the first trimester as opposed to waiting until the second. Questions of the quality and quantity of information and the perceived benefit of earlier access to fetal information were leading themes. Barriers to access prenatal care in early pregnancy presented participants with additional concerns about the ability to make informed decisions about prenatal genetic testing. The option of the first trimester aneuploidy screening test in early pregnancy generates decision-making uncertainty that can interfere with the informed consent process. Mechanisms must be developed to facilitate informed decision making for this new form of prenatal genetic screening.

  4. First Trimester Influenza Vaccination and Risks for Major Structural Birth Defects in Offspring.

    Science.gov (United States)

    Kharbanda, Elyse Olshen; Vazquez-Benitez, Gabriela; Romitti, Paul A; Naleway, Allison L; Cheetham, T Craig; Lipkind, Heather S; Klein, Nicola P; Lee, Grace; Jackson, Michael L; Hambidge, Simon J; McCarthy, Natalie; DeStefano, Frank; Nordin, James D

    2017-08-01

    To examine risks for major structural birth defects in infants after first trimester inactivated influenza vaccine (IIV) exposures. In this observational study, we used electronic health data from 7 Vaccine Safety Datalink sites to examine risks for selected major structural defects in infants after maternal IIV exposure. Vaccine exposures for women with continuous insurance enrollment through pregnancy who delivered singleton live births between 2004 and 2013 were identified from standardized files. Infants with continuous insurance enrollment were followed to 1 year of age. We excluded mother-infant pairs with other exposures that potentially increased their background risk for birth defects. Selected cardiac, orofacial or respiratory, neurologic, ophthalmologic or otologic, gastrointestinal, genitourinary and muscular or limb defects were identified from diagnostic codes in infant medical records using validated algorithms. Propensity score adjusted generalized estimating equations were used to estimate prevalence ratios (PRs). We identified 52 856 infants with maternal first trimester IIV exposure and 373 088 infants whose mothers were unexposed to IIV during first trimester. Prevalence (per 100 live births) for selected major structural birth defects was 1.6 among first trimester IIV exposed versus 1.5 among unexposed mothers. The adjusted PR was 1.02 (95% CI 0.94-1.10). Organ system-specific PRs were similar to the overall PR. First trimester maternal IIV exposure was not associated with an increased risk for selected major structural birth defects in this large cohort of singleton live births. Copyright © 2017 Elsevier Inc. All rights reserved.

  5. Algorithm for sorting chromosomal aberrations

    DEFF Research Database (Denmark)

    Vogel, Ida; Lund, Najaaraq; Rasmussen, Steen

    2018-01-01

    Prenatal diagnostic methods and screening procedures change rapidly in these years. Years ago only karyotyping was performed prenatally, and we monitored only Down syndrome(1) . Since then the diagnostic possibilities have increased to QF-PCR, FISH, MLPA and chromosomal microarray.......Prenatal diagnostic methods and screening procedures change rapidly in these years. Years ago only karyotyping was performed prenatally, and we monitored only Down syndrome(1) . Since then the diagnostic possibilities have increased to QF-PCR, FISH, MLPA and chromosomal microarray....

  6. IUD in first-trimester abortion: immediate intrauterine contraceptive devices insertion vs delayed insertion following the next menstruation bleeding.

    Science.gov (United States)

    Tsikouras, Panagiotis; Vrachnis, Nikolaos; Grapsa, Anastasia; Tsagias, Nikolaos; Pinidis, Petros; Liberis, Anastasios; Ammari, Alexandros; Grapsas, Xenofon; Galazios, Georgios; Liberis, Vasileios

    2014-07-01

    Approximately 21 days after an abortion, ovulation occurs in 50 % of women. Installation of an IUD directly after induced or spontaneous abortion offers immediate contraceptive protection. The purpose of the present study was to weigh up contraceptive safety and adverse reactions of IUD inserted directly after first-trimester abortion under general or paracervical anesthesia as against the fitting of IUD in the days of the next menstrual cycle without anesthesia. During the period May 1987 to October 2010, 73 women (Group A) underwent an immediate post-abortion insertion IUD after a first-trimester spontaneous or induced abortion under general or local paracervical anesthesia and 69 participants (Group B) received IUD during the next menstrual cycle without anesthesia. Questionnaires were completed by all the women of the study with respect to the effects of IUD. The women were examined every 3 months for 1 year after the fitting of the IUD in the out-patient department of the University Obstetrics Gynecological Department of Alexandroupolis, Democritus University of Thrace, Greece. The demographic characteristics of the women of the two groups were similar. The age of the women ranged between 19 and 44 years, while 61.98 % were women with one or two children and 38.02 % were women with three or more children. During the first menstrual cycles, with the exception of vaginal hemorrhages (5 %) and adnexitis (1 %), no serious adverse reactions were noted. During the transvaginal ultrasonography checks in both groups, no observation was made of any dislocation of the IUD, except for two cases in the subgroup of those women with paracervical anesthesia and one case in the women of Group B. As concerns the questionnaire with regard to the women's subjective evaluation of IUD, satisfactory answers were given. There were no differences between the two groups either with respect to the security of the supplied contraceptive methods or to the development of side effects.

  7. Evolutionary rate of a gene affected by chromosomal position.

    Science.gov (United States)

    Perry, J; Ashworth, A

    1999-09-09

    Genes evolve at different rates depending on the strength of selective pressure to maintain their function. Chromosomal position can also have an influence [1] [2]. The pseudoautosomal region (PAR) of mammalian sex chromosomes is a small region of sequence identity that is the site of an obligatory pairing and recombination event between the X and Y chromosomes during male meiosis [3] [4] [5] [6]. During female meiosis, X chromosomes can pair and recombine along their entire length. Recombination in the PAR is therefore approximately 10 times greater in male meiosis compared with female meiosis [4] [5] [6]. The gene Fxy (also known as MID1 [7]) spans the pseudoautosomal boundary (PAB) in the laboratory mouse (Mus musculus domesticus, C57BL/6) such that the 5' three exons of the gene are located on the X chromosome but the seven exons encoding the carboxy-terminal two-thirds of the protein are located within the PAR and are therefore present on both the X and Y chromosomes [8]. In humans [7] [9], the rat, and the wild mouse species Mus spretus, the gene is entirely X-unique. Here, we report that the rate of sequence divergence of the 3' end of the Fxy gene is much higher (estimated at 170-fold higher for synonymous sites) when pseudoautosomal (present on both the X and Y chromosomes) than when X-unique. Thus, chromosomal position can directly affect the rate of evolution of a gene. This finding also provides support for the suggestion that regions of the genome with a high recombination frequency, such as the PAR, may have an intrinsically elevated rate of sequence divergence.

  8. Diagnostic radiation and chromosome aberrations

    International Nuclear Information System (INIS)

    Patil, S.R.; Hecht, F.; Lubs, H.A.; Kimberling, W.; Brown, J.; Gerald, P.S.; Summitt, R.L.

    1977-01-01

    Some evidence is presented suggesting that diagnostic X-rays may be important in the origin of a new chromosomal abnormality other than Down syndrome. Chromosome analyses have been carried out on 4342 children, seven or eight years old. Maternal diagnostic irradiation in the year before conception and up to third lunar month of the index pregnancy was recorded, before the chromosome study began, together with a large amount of family and clinical data. Information on X-ray exposure was supplied by the mothers, s o radiation dosage could not be estimated. 21 children (including a pair of twins and a pair of siblings) born to 19 mothers had chromosomal aberrations. The mothers of six children with inherited translocations, rearrangements and XYY karyotypes were excluded, and 3 (23%) of the remaining 13 mothers had received abdominal and pelvic X-ray exposures. In the whole sample, however, only 6% of the mothers had diagnostic irradiation. Two of these mothers, aged sixteen and twenty, gave birth to a child each with de-novo autosomal translocations, and the third mother, aged thirty-two, had a child with a complex mosaicism involving one X chromosome. Although the sample size of the mothers with chromosomally abnormal children is small, the results are significant. (U.K.)

  9. Diagnostic radiation and chromosome aberrations

    Energy Technology Data Exchange (ETDEWEB)

    Patil, S R; Hecht, F [Dept. of Pediatrics, Child Development and Rehabilitation Center, Univ. of Oregon Health Sciences Center, Portland, Oregon (USA); Lubs, H A; Kimberling, W; Brown, J; Gerald, P S; Summitt, R L

    1977-01-15

    Some evidence is presented suggesting that diagnostic X-rays may be important in the origin of a new chromosomal abnormality other than Down syndrome. Chromosome analyses have been carried out on 4342 children, seven or eight years old. Maternal diagnostic irradiation in the year before conception and up to third lunar month of the index pregnancy was recorded, before the chromosome study began, together with a large amount of family and clinical data. Information on X-ray exposure was supplied by the mothers, so radiation dosage could not be estimated. 21 children (including a pair of twins and a pair of siblings) born to 19 mothers had chromosomal aberrations. The mothers of six children with inherited translocations, rearrangements and XYY karyotypes were excluded, and 3 (23%) of the remaining 13 mothers had received abdominal and pelvic X-ray exposures. In the whole sample, however, only 6% of the mothers had diagnostic irradiation. Two of these mothers, aged sixteen and twenty, gave birth to a child each with de-novo autosomal translocations, and the third mother, aged thirty-two, had a child with a complex mosaicism involving one X chromosome. Although the sample size of the mothers with chromosomally abnormal children is small, the results are significant.

  10. Designing of plant artificial chromosome (PAC) by using the Chlorella smallest chromosome as a model system.

    Science.gov (United States)

    Noutoshi, Y; Arai, R; Fujie, M; Yamada, T

    1997-01-01

    As a model for plant-type chromosomes, we have been characterizing molecular organization of the Chlorella vulgaris C-169 chromosome I. To identify chromosome structural elements including the centromeric region and replication origins, we constructed a chromosome I specific cosmid library and aligned each cosmid clones to generate contigs. So far, more than 80% of the entire chromosome I has been covered. A complete clonal physical reconstitution of chromosome I provides information on the structure and genomic organization of plant genome. We propose our strategy to construct an artificial chromosome by assembling the functional chromosome structural elements identified on Chrorella chromosome I.

  11. Numerically abnormal chromosome constitutions in humans

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1993-12-31

    Chapter 24, discusses numerically abnormal chromosome constitutions in humans. This involves abnormalities of human chromosome number, including polyploidy (when the number of sets of chromosomes increases) and aneuploidy (when the number of individual normal chromosomes changes). Chapter sections discuss the following chromosomal abnormalities: human triploids, imprinting and uniparental disomy, human tetraploids, hydatidiform moles, anomalies caused by chromosomal imbalance, 13 trisomy (D{sub 1} trisomy, Patau syndrome), 21 trisomy (Down syndrome), 18 trisomy syndrome (Edwards syndrome), other autosomal aneuploidy syndromes, and spontaneous abortions. The chapter concludes with remarks on the nonrandom participation of chromosomes in trisomy. 69 refs., 3 figs., 4 tabs.

  12. Chromosomal Speciation Revisited: Modes of Diversification in Australian Morabine Grasshoppers (Vandiemenella, viatica Species Group

    Directory of Open Access Journals (Sweden)

    Steven J. B. Cooper

    2011-03-01

    Full Text Available Chromosomal rearrangements can alter the rate and patterns of gene flow within or between species through a reduction in the fitness of chromosomal hybrids or by reducing recombination rates in rearranged areas of the genome. This concept, together with the observation that many species have structural variation in chromosomes, has led to the theory that the rearrangements may play a direct role in promoting speciation. Australian morabine grasshoppers (genus Vandiemenella, viatica species group are an excellent model for studying the role of chromosomal rearrangement in speciation because they show extensive chromosomal variation, parapatric distribution patterns, and narrow hybrid zones at their boundaries. This species group stimulated development of one of the classic chromosomal speciation models, the stasipatric speciation model proposed by White in 1968. Our population genetic and phylogeographic analyses revealed extensive non-monophyly of chromosomal races along with historical and on-going gene introgression between them. These findings suggest that geographical isolation leading to the fixation of chromosomal variants in different geographic regions, followed by secondary contact, resulted in the present day parapatric distributions of chromosomal races. The significance of chromosomal rearrangements in the diversification of the viatica species group can be explored by comparing patterns of genetic differentiation between rearranged and co-linear parts of the genome.

  13. First-Trimester Pregnancy Exposure to Venlafaxine or Duloxetine and Risk of Major Congenital Malformations

    DEFF Research Database (Denmark)

    Lassen, Dorte; Ennis, Zandra Nymand; Damkier, Per

    2016-01-01

    and noradrenaline reuptake inhibitors, SNRIs, significantly less data are available. Following the PRISMA guideline for systematic reviews, we performed a systematic search on the risk of major congenital malformations after first trimester in utero exposure to venlafaxine or duloxetine. We identified eight cohort...... studies reporting on the outcome upon in utero exposure to venlafaxine or duloxetine during the first trimester. The cumulated data for venlafaxine were 3186 exposed infants and 107 major malformations, resulting in a relative risk estimate and 95% confidence interval of 1.12 (0.......92-1.35). The corresponding data for duloxetine were 668 infants and 16 major malformations, resulting in a relative risk estimate and 95% confidence interval of 0.80 (0.46-1.29). First-trimester in utero exposure to venlafaxine is not associated with an increased risk of major congenital malformations. The amount of data...

  14. An experience of second-trimester anhydramnios salvaged by single amnioinfusion.

    Science.gov (United States)

    Io, Shingo; Kondoh, Eiji; Chigusa, Yoshitsugu; Tani, Hirohiko; Hamanishi, Junzo; Konishi, Ikuo

    2017-11-20

    Second-trimester anhydramnios, which is primarily caused by ruptured membranes, placental dysfunction, or congenital renal malformations, is associated with high perinatal morbidity and mortality. Although amnioinfusion temporarily increases amniotic fluid volume, it does not generally provide a fundamental solution. We describe a case of second-trimester anhydramnios with an umbilical cord factor, wherein single amnioinfusion may have successfully broken a vicious circle involving non-reassuring fetal status. A 34-year-old primigravid woman was referred to our hospital because of anhydramnios at 22 weeks' gestation. Single amnioinfusion improved the fetal circulatory failure, and the patient delivered a healthy full-term newborn. Single amnioinfusion may be a therapeutic approach to improve the prognosis of pregnancy when second-trimester anhydramnios results from umbilical cord factors.

  15. Predisposing Factors to Abnormal First Trimester Placentation and the Impact on Fetal Outcomes

    Science.gov (United States)

    Kroener, Lindsay; Wang, Erica T.; Pisarska, Margareta D.

    2016-01-01

    Normal placentation during the first trimester sets the stage for the rest of pregnancy and involves a finely orchestrated cellular and molecular interplay of maternal and fetal tissues. The resulting intrauterine environment plays an important role in fetal programming and the future health of the fetus, and is impacted by multiple genetic and epigenetic factors. Abnormalities in placentation and spiral artery invasion can lead to ischemia, placental disease and adverse obstetrical outcomes including preeclampsia, intrauterine growth restriction, and placental abruption. Although first trimester placentation is affected my multiple factors, preconception environmental influences such as mode of conception, including assisted reproductive technologies which result in fertilization in vitro and intrauterine influences due to sex differences are emerging as potential significant factors impacting first trimester placentation. PMID:26696276

  16. Dating of Pregnancy in First versus Second Trimester in Relation to Post-Term Birth Rate

    DEFF Research Database (Denmark)

    Thagaard, Ida Näslund; Krebs, Lone; Lausten-Thomsen, Ulrik

    2016-01-01

    OBJECTIVES: To evaluate in a national standardised setting whether the performance of ultrasound dating during the first rather than the second trimester of pregnancy had consequences regarding the definition of pre- and post-term birth rates. METHODS: A cohort study of 8,551 singleton pregnancies...... with spontaneous delivery was performed from 2006 to 2012 at Copenhagen University Hospital, Holbæk, Denmark. We determined the duration of pregnancy calculated by last menstrual period, crown rump length (CRL), biparietal diameter (1st trimester), BPD (2nd trimester), and head circumference and compared mean...... and median durations, the mean differences, the systematic discrepancies, and the percentages of pre-term and post-term pregnancies in relation to each method. The primary outcomes were post-term and pre-term birth rates defined by different dating methods. RESULTS: The change from use of second to first...

  17. Prenatal diagnosis of sirenomelia in the first trimester: A case report.

    Science.gov (United States)

    Ceylan, Yasin; Doğan, Yasemin; Özkan Özdemir, Sebiha; Yücesoy, Gülseren

    2016-03-01

    Sirenomelia or "mermaid syndrome" is a rare congenital syndrome characterized by the anomalous development of the caudal region of the body. We present a case of sirenomelia diagnosed in the first trimester using two-dimensional and three-dimensional ultrasonographic examination. A nulliparous woman aged thirty years was referred to our perinatology unit for evaluation because of oligohydramnios at 12 weeks of gestation. Her medical history was unremarkable. There was no family history of genetic abnormalities. We identified a single lower extremity and severe oligohydramnios, which are characteristics of sirenomelia. Sirenomelia, a developmental defect involving the caudal region of the body, is associated with several internal visceral anomalies. Sirenomelia is fatal in most cases due to the characteristic pulmonary hypoplasia and renal agenesia. Prenatal diagnosis of sirenomelia may be difficult in the second or third trimester because of the severe oligohydramnios; it should be easier to diagnose sirenomelia in the first trimester.

  18. Serum chemerin level during the first trimester of pregnancy and the risk of gestational diabetes mellitus.

    Science.gov (United States)

    Yang, Xuezhou; Quan, Xiaozhen; Lan, Yanli; Ye, Jinhai; Wei, Qipeng; Yin, Xiaofang; Fan, Fangfang; Xing, Hui

    2017-10-01

    To investigate the association between chemerin level in the first trimester of pregnancy and the risk of gestational diabetes mellitus. The blood samples of 212 women at 8-12 weeks of gestation were collected. After screening for gestational diabetes mellitus (GDM), 19 women with GDM and 20 women randomly selected from 144 women with normal glucose tolerance (NGT) were included in the study. Blood samples were collected from these women. Triglycerides, glucose, total cholesterol, and HDL cholesterol, LDL cholesterol, insulin and chemerin were measured. Gestational weight gain and body mass index was assessed. Serum levels of chemerin were significantly elevated during late gestation, and the risk of GDM was positively associated with maternal serum chemerin in the first trimester. Serum chemerin level during the first trimester of pregnancy has the potential to predict risk of GDM.

  19. Sonographic detection of open spina bifida in the first trimester: review of the literature.

    Science.gov (United States)

    Meller, César; Aiello, Horacio; Otaño, Lucas

    2017-07-01

    In the beginnings, sonographic diagnosis of open spina bifida (OSB) relied on the meticulous scanning of the fetal vertebrae for abnormalities but many defects were missed. After the mid-1980s, however, with the description of the intracranial findings in the second trimester (the "lemon sign" and the "banana sign"), the prenatal diagnosis of OSB was enhanced. In the last 2 decades, there has been widespread uptake of routine ultrasound examination in the first trimester of pregnancy with the purpose of the measurement of fetal crown-rump length to determine gestational age, to screen for trisomy 21 and other aneuploidies, mainly with the nuchal translucency, and for diagnosis of many major abnormalities. Many papers were published focusing on early diagnosis of myelomeningocele (MMC), and the objective of this review is to summarize the different techniques described regarding prenatal diagnosis of OSB in the first trimester of pregnancy.

  20. Improved detection rate of structural abnormalities in the first trimester using an extended examination protocol.

    Science.gov (United States)

    Iliescu, D; Tudorache, S; Comanescu, A; Antsaklis, P; Cotarcea, S; Novac, L; Cernea, N; Antsaklis, A

    2013-09-01

    To assess the potential of first-trimester sonography in the detection of fetal abnormalities using an extended protocol that is achievable with reasonable resources of time, personnel and ultrasound equipment. This was a prospective two-center 2-year study of 5472 consecutive unselected pregnant women examined at 12 to 13 + 6 gestational weeks. Women were examined using an extended morphogenetic ultrasound protocol that, in addition to the basic evaluation, involved a color Doppler cardiac sweep and identification of early contingent markers for major abnormalities. The prevalence of lethal and severe malformations was 1.39%. The first-trimester scan identified 40.6% of the cases detected overall and 76.3% of major structural defects. The first-trimester detection rate (DR) for major congenital heart disease (either isolated or associated with extracardiac abnormalities) was 90% and that for major central nervous system anomalies was 69.5%. In fetuses with increased nuchal translucency (NT), the first-trimester DR for major anomalies was 96%, and in fetuses with normal NT it was 66.7%. Most (67.1%) cases with major abnormalities presented with normal NT. A detailed first-trimester anomaly scan using an extended protocol is an efficient screening method to detect major fetal structural abnormalities in low-risk pregnancies. It is feasible at 12 to 13 + 6 weeks with ultrasound equipment and personnel already used for routine first-trimester screening. Rate of detection of severe malformations is greater in early- than in mid-pregnancy and on postnatal evaluation. Early heart investigation could be improved by an extended protocol involving use of color Doppler. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd.

  1. Trimester specific reference intervals for thyroid function tests in normal Indian pregnant women.

    Science.gov (United States)

    Sekhri, Tarun; Juhi, Juhi Agarwal; Wilfred, Reena; Kanwar, Ratnesh S; Sethi, Jyoti; Bhadra, Kuntal; Nair, Sirimavo; Singh, Satveer

    2016-01-01

    Accurate assessment of thyroid function during pregnancy is critical, for initiation of thyroid hormone therapy, as well as for adjustment of thyroid hormone dose in hypothyroid cases. We evaluated pregnant women who had no past history of thyroid disorders and studied their thyroid function in each trimester. 86 normal pregnant women in the first trimester of pregnancy were selected for setting reference intervals. All were healthy, euthyroid and negative for thyroid peroxidase antibody (TPOAb). These women were serially followed throughout pregnancy. 124 normal nonpregnant subjects were selected for comparison. Thyrotropin (TSH), free thyroxine (FT4), free triiodothyronine (FT3) and anti-TPO were measured using Roche Elecsys 1010 analyzer. Urinary iodine content was determined by simple microplate method. The 2.5th and 97.5th percentiles were calculated as the reference intervals for thyroid hormone levels during each trimester. SPSS (version 14.0, SPSS Inc., Chicago, IL, USA) was used for data processing and analysis. The reference intervals for the first, second and third trimesters for the following parameters: TSH 0.09-6.65, 0.51-6.66, 0.91-4.86 µIU/mL, FT4 9.81-18.53, 8.52-19.43, 7.39-18.28 pM/L and FT3 3.1-6.35, 2.39-5.12, 2.57-5.68 pM/L respectively. Thyroid hormone concentrations significantly differed during pregnancy at different stages of gestation. The pregnant women in the study had median urinary iodine concentration of 150-200 µg/l during each trimester. The trimester-specific reference intervals for thyroid tests during pregnancy have been established for pregnant Indian women serially followed during pregnancy using 2.5th and 97.5th percentiles.

  2. Neonatal congenital lung tumors - the importance of mid-second-trimester ultrasound as a diagnostic clue

    International Nuclear Information System (INIS)

    Waelti, Stephan L.; Garel, Laurent; Rypens, Francoise; Dubois, Josee; Dal Soglio, Dorothee; Messerli, Michael

    2017-01-01

    The differential diagnosis for primary lung masses in neonates includes a variety of developmental abnormalities; it also consists of the much rarer congenital primary lung tumors: cystic pleuropulmonary blastoma (cystic PPB), fetal lung interstitial tumor (FLIT), congenital peribronchial myofibroblastic tumor (CPMT), and congenital fibrosarcoma. Radiologic differentiation between malformations and tumors is often very challenging. The objective was to establish distinctive features between developmental pulmonary abnormalities and primary lung tumors. We conducted a retrospective study of 135 congenital lung lesions at a university mother and child center over a period of 10 years (2005-2015). During this time, we noted four tumors (two cystic PPBs and two FLITs) and 131 malformations. We recorded the following parameters: timing of conspicuity in utero (mid-second trimester, third trimester, or not seen prenatally), presence of symptoms at birth, prenatal and perinatal radiologic findings, and either histological diagnoses by pathology or follow-up imaging in non-operated cases. All lesions except the four tumors were detected during mid-second-trimester ultrasound. In none of the tumors was any pulmonary abnormality found on the mid-second-trimester sonogram, contrary to the developmental pulmonary abnormalities. The timing of conspicuity in utero appears to be a key feature for the differentiation between malformations and tumors. Lesions that were not visible at the mid-second-trimester ultrasound should be considered as tumor. A cystic lung lesion in the context of a normal mid-second-trimester ultrasound is highly suggestive of a cystic PPB. Differentiating the types of solid congenital lung tumors based upon imaging features is not yet feasible. (orig.)

  3. Maternal age during pregnancy is associated with third trimester blood pressure level: the generation R study.

    Science.gov (United States)

    Gaillard, Romy; Bakker, Rachel; Steegers, Eric A P; Hofman, Albert; Jaddoe, Vincent W V

    2011-09-01

    We hypothesized that hemodynamic adaptations related to pregnancy and ageing might be associated with differences in blood pressure levels during pregnancy between younger and older women. This might partly explain the increased risk of gestational hypertensive disorders with advanced maternal age. We examined the associations of maternal age with systolic and diastolic blood pressure in each trimester of pregnancy and the risks of gestational hypertensive disorders. The study was conducted among 8,623 women participating in a population-based prospective cohort study from early pregnancy onwards. Age was assessed at enrolment. Blood pressure was measured in each trimester. Information about gestational hypertensive disorders was available from medical records. In second and third trimester, older maternal age was associated with lower systolic blood pressure (-0.9 mm Hg (95% confidence interval: -1.4, -0.3) and -0.6 mm Hg (95% confidence interval: -1.1, -0.02) per additional 10 maternal years, respectively). Older maternal age was associated with higher third trimester diastolic blood pressure (0.5 mm Hg (95% confidence interval: 0.04, 0.9) per additional 10 maternal years). Maternal age was associated with pregnancy-induced hypertension among overweight and obese women. Older maternal age is associated with lower second and third trimester systolic blood pressure, but higher third trimester diastolic blood pressure. These blood pressure differences seem to be small and within the physiological range. Maternal age is not consistently associated with the risks of gestational hypertensive disorders. Maternal body mass index might influence the association between maternal age and the risk of pregnancy-induced hypertension.

  4. Neonatal congenital lung tumors - the importance of mid-second-trimester ultrasound as a diagnostic clue

    Energy Technology Data Exchange (ETDEWEB)

    Waelti, Stephan L.; Garel, Laurent; Rypens, Francoise; Dubois, Josee [University of Montreal, Department of Medical Imaging, Sainte-Justine Hospital, Quebec (Canada); Dal Soglio, Dorothee [University of Montreal, Department of Pathology, Sainte-Justine Hospital, Quebec (Canada); Messerli, Michael [University Hospital Zurich, University of Zurich, Department of Nuclear Medicine, Zurich (Switzerland)

    2017-12-15

    The differential diagnosis for primary lung masses in neonates includes a variety of developmental abnormalities; it also consists of the much rarer congenital primary lung tumors: cystic pleuropulmonary blastoma (cystic PPB), fetal lung interstitial tumor (FLIT), congenital peribronchial myofibroblastic tumor (CPMT), and congenital fibrosarcoma. Radiologic differentiation between malformations and tumors is often very challenging. The objective was to establish distinctive features between developmental pulmonary abnormalities and primary lung tumors. We conducted a retrospective study of 135 congenital lung lesions at a university mother and child center over a period of 10 years (2005-2015). During this time, we noted four tumors (two cystic PPBs and two FLITs) and 131 malformations. We recorded the following parameters: timing of conspicuity in utero (mid-second trimester, third trimester, or not seen prenatally), presence of symptoms at birth, prenatal and perinatal radiologic findings, and either histological diagnoses by pathology or follow-up imaging in non-operated cases. All lesions except the four tumors were detected during mid-second-trimester ultrasound. In none of the tumors was any pulmonary abnormality found on the mid-second-trimester sonogram, contrary to the developmental pulmonary abnormalities. The timing of conspicuity in utero appears to be a key feature for the differentiation between malformations and tumors. Lesions that were not visible at the mid-second-trimester ultrasound should be considered as tumor. A cystic lung lesion in the context of a normal mid-second-trimester ultrasound is highly suggestive of a cystic PPB. Differentiating the types of solid congenital lung tumors based upon imaging features is not yet feasible. (orig.)

  5. Noninvasive prenatal testing in routine clinical practice--an audit of NIPT and combined first-trimester screening in an unselected Australian population.

    Science.gov (United States)

    McLennan, Andrew; Palma-Dias, Ricardo; da Silva Costa, Fabricio; Meagher, Simon; Nisbet, Debbie L; Scott, Fergus

    2016-02-01

    There are limited data regarding noninvasive prenatal testing (NIPT) in low-risk populations, and the ideal aneuploidy screening model for a pregnant population has yet to be established. To assess the implementation of NIPT into clinical practice utilising both first- and second-line screening models. Three private practices specialising in obstetric ultrasound and prenatal diagnosis in Australia offered NIPT as a first-line test, ideally followed by combined first-trimester screening (cFTS), or as a second-line test following cFTS, particularly in those with a calculated risk between 1:50 and 1:1000. NIPT screening was performed in 5267 women and as a first-line screening method in 3359 (63.8%). Trisomies 21 and 13 detection was 100% and 88% for trisomy 18. Of cases with known karyotypes, the positive predictive value (PPV) of the test was highest for trisomy 21 (97.7%) and lowest for monosomy X (25%). Ultrasound detection of fetal structural abnormality resulted in the detection of five additional chromosome abnormalities, two of which had high-risk cFTS results. For all chromosomal abnormalities, NIPT alone detected 93.4%, a contingent model detected 81.8% (P = 0.097), and cFTS alone detected 65.9% (P < 0.005). NIPT achieved 100% T21 detection and had a higher DR of all aneuploidy when used as a first-line test. Given the false-positive rate for all aneuploidies, NIPT is an advanced screening test, rather than a diagnostic test. The benefit of additional cFTS was the detection of fetal structural abnormalities and some unusual chromosomal abnormalities. © 2016 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  6. ADAM-12 stability in first trimester maternal serum.

    Science.gov (United States)

    Cowans, N J; Stamatopoulou, A; Jaakohuhta, S; Spencer, K

    2010-06-01

    Maternal serum A Disintergrin And Metaloprotease-12 (ADAM-12) has been proposed as a marker for prenatal screening of chromosomal abnormalities, pre-eclampsia and other adverse pregnancy outcomes. In this study, we examine the stability of ADAM-12 with time and at different temperatures. Maternal serum and whole blood pools were stored at 30 degrees C, room temperature and refrigerator temperature or subjected to repeated freeze-thaw cycles. ADAM-12 was measured at set time points using an automated DELFIA research assay. Using a 10% change in concentration as a limit of stability, ADAM-12 is stable in serum for less than 15 h at 30 degrees C, less than 20 h at room temperature and for 51 h at refrigerator temperature. ADAM-12 levels are not altered following three - 20 degrees C to room temperature freeze-thaw cycles. The stability of ADAM-12 in whole blood appears similar to that in serum. The findings of this study suggest that ADAM-12 may be unstable under many routine laboratory conditions, and the marker's instability may also be partly responsible for the discrepancies in the literature.

  7. Adiponectin and leptin as first trimester markers for gestational diabetes mellitus

    DEFF Research Database (Denmark)

    Thagaard, Ida Näslund; Krebs, Lone; Holm, Jens Christian

    2017-01-01

    Background: Gestational diabetes mellitus (GDM) is increasing partly due to the obesity epidemic. Adipocytokines have thus been suggested as first trimester screening markers for GDM. In this study we explore the associations between body mass index (BMI) and serum concentrations of adiponectin......, leptin, and the adiponectin/leptin ratio. Furthermore, we investigate whether these markers can improve the ability to screen for GDM in the first trimester. Methods: A cohort study in which serum adiponectin and leptin were measured between gestational weeks 6+0 and 14+0 in 2590 pregnant women...

  8. Transmission of chromosomal and instability via a chromosome irradiated with ionizing radiation

    International Nuclear Information System (INIS)

    Kodama, Seiji; Tanabe, Masateru; Shiraishi, Kazunori; Oshimura, Mitsuo

    2010-01-01

    We examined the stability of the transferred chromosome in 5 and 12 microcell hybrids including unirradiated human chromosomes 6 and 8, respectively, and 6 and 19 microcell hybrids including 4 Gy-irradiated human chromosomes 6 and 8, respectively. The transferred chromosome was structurally stable in most microcell hybrids transferred with the unirradiated chromosomes 6 and 8. In contrast, the 4 Gy-irradiated human chromosomes were unstable in 3 out of 6 hybrids (50%) with chromosome 6 and 3 out of 19 hybrids (16%) with chromosome 8, showing multiple aberrations in high frequencies (35∼98%). To know the cause of delayed chromosomal instability, intrachromosomal rearrangements of the human chromosome is investigated by subtelomere FISH in 17 microcell hybrids transferred with chromosomes 6 and 8. We found frequent intrachromosomal in 7 microcell hybrids (41%). However, no clear correlation was observed between the intrachromosomal rearrangements and the induction of delayed chromosomal instability by ionizing radiation

  9. Retrospective dosimetry using chromosome painting

    International Nuclear Information System (INIS)

    Nasazzi, N.B.; Giorgio, M.D.; Taja, M.R.

    2000-01-01

    Chromosome aberration frequency measured in peripheral lymphocytes of persons exposed to ionizing radiation has been used since 1960s for dose assessment. Suspected overexposure is usually evaluated by the frequency of dicentrics and centric rings using an appropriate in vitro calibration curve. However, these chromosome aberrations are unstable with time after exposure and dose reconstruction may encounter uncertainties when the time between the exposure and the analysis is considerable or even unknown. It appears that translocations persist with time after exposure and may be used as an indication of acute past overexposures. Moreover, they appear to accumulate the cytogenetical information, which correlates with the dose received under fractionated, chronic or even occupational exposure conditions. Translocations may be detected using G-banding, which allows to score the total amount of radiation induced translocations but it is a time consuming method, or by Chromosome Painting, a method base on the Fluorescence in situ Hybridization (FISH) technique, painting only some chromosome pairs with specific whole chromosome probes and then extrapolating the observed translocation frequencies to the full genome. The latter method allows a faster aberration scoring than G-banding and appears to be the most promissory tool for biodosimetry, particularly when it is necessary to assess low doses and consequently to score a large number of metaphases, e.g. radiation workers exposed within dose limits. As with the unstable chromosome aberration, it is necessary an in vitro calibration curve based on the frequency of stable chromosome aberrations to assess doses. Our laboratory performed calibration curves for Co 60 γ-rays based on the frequencies of unstable (dicentrics and centric rings detected by conventional Giemsa staining) and stable chromosome aberrations (translocations and inversions, detected by G-banding). In order to minimize the interlaboratory variability, we

  10. Chromosome segregation in plant meiosis

    Directory of Open Access Journals (Sweden)

    Linda eZamariola

    2014-06-01

    Full Text Available Faithful chromosome segregation in meiosis is essential for ploidy stability over sexual life cycles. In plants, defective chromosome segregation caused by gene mutations or other factors leads to the formation of unbalanced or unreduced gametes creating aneuploid or polyploid progeny, respectively. Accurate segregation requires the coordinated execution of conserved processes occurring throughout the two meiotic cell divisions. Synapsis and recombination ensure the establishment of chiasmata that hold homologous chromosomes together allowing their correct segregation in the first meiotic division, which is also tightly regulated by cell-cycle dependent release of cohesin and monopolar attachment of sister kinetochores to microtubules. In meiosis II, bi-orientation of sister kinetochores and proper spindle orientation correctly segregate chromosomes in four haploid cells. Checkpoint mechanisms acting at kinetochores control the accuracy of kinetochore-microtubule attachment, thus ensuring the completion of segregation. Here we review the current knowledge on the processes taking place during chromosome segregation in plant meiosis, focusing on the characterization of the molecular factors involved.

  11. Radiation exposure and chromosome damage

    International Nuclear Information System (INIS)

    Lloyd, D.

    1979-01-01

    Chromosome damage is discussed as a means of biologically measuring radiation exposure to the body. Human lymphocytes are commonly used for this test since the extent of chromosome damage induced is related to the exposure dose. Several hundred lymphocytes are analysed in metaphase for chromosome damage, particularly dicentrics. The dose estimate is made by comparing the observed dicentric yield against calibration curves, previously produced by in vitro irradiation of blood samples to known doses of different types of radiation. This test is useful when there is doubt that the film badge has recorded a reasonable whole body dose and also when there is an absence of any physical data. A case of deliberate exposure is described where the chromosome damage test estimated an exposure of 152 rads. The life span of cell aberrations is also considered. Regular checks on radiotherapy patients and some accidental overdose cases have shown little reduction in the aberration levels over the first six weeks after which the damage disappears slowly with a half-life of about three years. In conclusion, chromosome studies have been shown to be of value in resolving practical problems in radiological protection. (U.K.)

  12. Senam Hamil Berpengaruh Terhadap Tingkat Kecemasan pada Primigravida Trimester III di RSIA Sakina Idaman Sleman, D. I Yogyakarta

    Directory of Open Access Journals (Sweden)

    Farida Aryani

    2017-01-01

    Full Text Available The anxieties that suffered by pregnant mother are about pregnancy, labor and the role as the mother. Pregnant women will also be transmitting physical effects to the fetus out his emotions, if concerns increase will affect fetus. Increased chemically and hormone levels generated by these qualm will circulate in the body and penetrate the placenta until the fetus. In the form of a trimester III anxiety pregnant women namely maternity doubt can normally, fear is not able to withstand pain during childbirth, the health of babies after birth, smoothness childbirth, the state of pregnant women after childbirth, childbirth is not appropriate desire, not directly meet baby after childbirth, and that diminished attention from others. Information about the experience of deliveries scary also increased anxiety on pregnant women. Factors that affects anxiety for pregnant women of them are lack of support family, sufficiency financial, stress of the neighborhood, the ability mastery pregnancy, and information about experiences deliveries scary. Complication in pregnancy resulting from burden psychological can be reduced or is eliminated by provide treatment and activity sports during pregnancy. This study to knows the influence of pregnancy exercise in reducing the anxiety on primigravida third trimester. Design of Research is quasi experiment with pretest–post test non equivalent control group design. The amount of sample of research was 56 people with accidental sampling. Analysis of univariabel showed each of variable. Analysis of bivariabel used t-test and regresi of linier to analysis of multivariabel. The approximately of the anxiety for the first group (the group that given the pregnancy exercise is lower -4.3±3.8 than another group/second group (that group that didn’t given the pregnancy exercise 0.8±1.2. The result t-test p 0.00001<0.05. Variable of outside that influent toward the anxiety are education and income with value p>0.05.

  13. Antigen-presenting cells represent targets for R5 HIV-1 infection in the first trimester pregnancy uterine mucosa.

    Directory of Open Access Journals (Sweden)

    Romain Marlin

    Full Text Available BACKGROUND: During the first trimester of pregnancy, HIV-1 mother-to-child transmission is relatively rare despite the permissivity of placental cells to cell-to-cell HIV-1 infection. The placenta interacts directly with maternal uterine cells (decidual cells but the physiological role of the decidua in the control of HIV-1 transmission and whether decidua could be a source of infected cells is unknown. METHODOLOGY/PRINCIPAL FINDINGS: To answer to this question, decidual mononuclear cells were exposed to HIV-1 in vitro. Decidual cells were shown to be more susceptible to infection by an R5 HIV-1, as compared to an X4 HIV-1. Infected cells were identified by flow cytometry analysis. The results showed that CD14(+ cells were the main targets of HIV-1 infection in the decidua. These infected CD14(+ cells expressed DC-SIGN, CD11b, CD11c, the Fc gamma receptor CD16, CD32 and CD64, classical MHC class-I and class-II and maturation and activation molecules CD83, CD80 and CD86. The permissivity of decidual tissue was also evaluated by histoculture. Decidual tissue was not infected by X4 HIV-1 but was permissive to R5 HIV-1. Different profiles of infection were observed depending on tissue localization. CONCLUSIONS/SIGNIFICANCE: The presence of HIV-1 target cells in the decidua in vitro and the low rate of in utero mother-to-child transmission during the first trimester of pregnancy suggest that a natural control occurs in vivo limiting cell-to-cell infection of the placenta and consequently infection of the fetus.

  14. Chromosomal rearrangement interferes with meiotic X chromosome inactivation

    Czech Academy of Sciences Publication Activity Database

    Homolka, David; Ivánek, Robert; Čapková, Jana; Jansa, Petr; Forejt, Jiří

    2007-01-01

    Roč. 17, č. 10 (2007), s. 1431-1437 ISSN 1088-9051 R&D Projects: GA MŠk(CZ) 1M0520; GA ČR GA301/06/1334; GA ČR GA301/07/1383 Grant - others:Howard Hughes Medical Institute(US) HHMI 55000306 Institutional research plan: CEZ:AV0Z50520514 Keywords : chromosomal translocations * meiotic X chromosome inactivation * spermatogenesis Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 11.224, year: 2007

  15. Low PAPP-A in the first trimester is associated with reduced fetal growth rate prior to gestational week 20

    DEFF Research Database (Denmark)

    Salvig, J D; Kirkegaard, I; Winding, Trine Nøhr

    2010-01-01

    To evaluate the association between maternal pregnancy-associated plasma protein-A (PAPP-A) and fetal growth from the first to the second trimester.......To evaluate the association between maternal pregnancy-associated plasma protein-A (PAPP-A) and fetal growth from the first to the second trimester....

  16. Assignment of the human gene for pregnancy-associated plasma protein A (PAPPA) to 9q33.1 by fluorescence in situ hybridization to mitotic and meiotic chromosomes

    DEFF Research Database (Denmark)

    Silahtaroglu, A N; Tümer, Z; Kristensen, Torsten

    1993-01-01

    Low levels of pregnancy-associated plasma protein A (PAPPA) during the first trimester has been suggested as a biochemical indicator of pregnancies with aneuploid fetuses. Furthermore, the complete absence of PAPPA in pregnancies associated with Cornelia de Lange syndrome (CL) has suggested...... a causal connection between PAPPA and the development of CL. We have assigned the locus for PAPPA to chromosome region 9q33.1 on mitotic and meiotic chromosomes by fluorescence in situ hybridization, using a 3.7-kb partial PAPPA cDNA probe...

  17. The relationship between maternal body composition in early pregnancy and foetal mid-thigh soft-tissue thickness in the third trimester in a high-risk obstetric population.

    Science.gov (United States)

    Anglim, Breffini; Farah, Nadine; O'Connor, Clare; Daly, Niamh; Kennelly, Mairead M; Turner, Michael J

    2017-07-01

    Maternal obesity is an emerging challenge in contemporary obstetrics. To date there has been no study analysing the relationship between specific maternal body composition measurements and foetal soft-tissue measurements. The aim of this study was to determine whether measurement of maternal body composition at booking predicts foetal soft-tissue trajectories in the third trimester. We analysed the relationship between foetal thigh in the third trimester and both maternal BMI and body composition using the Tanita digital scales in the first trimester. Foetal subcutaneous thigh tissue measurements were obtained at intervals of 28, 32 and 36 weeks of gestation. A total of 160 women were identified. There was a direct correlation between MTST at 36 weeks and BMI (p = .002). There was a positive correlation between MTST at 36 weeks and leg fat mass (p = .13) and leg fat free mass (p = .013). There was a positive correlation between arm fat free mass and MTST at 36 weeks. We showed there is an association between maternal fat distribution and foetal subcutaneous thigh tissue measurements. MTST may be more useful in determining if a child is at risk of macrosomia. Impact statement Previous studies have suggested that maternal obesity programmes intrauterine foetal adiposity and growth. The aim of this study was to examine the relationship in a high-risk obstetric population between measurements of maternal body composition in early pregnancy and the assessment of foetal adiposity in the third trimester using serial ultrasound measurements of mid-thigh soft-tissue thickness. BMI is only a surrogate measurement of fat and does not measure fat distribution. Our study shows the distribution of both maternal fat and fat-free mass in early pregnancy may be positively associated with foetal soft-tissue measurements in the third trimester. Maternal arthropometric measurements other than BMI may help predict babies at risk of macrosomia and neonatal adiposity.

  18. Prevalence of oral lesions and measurement of salivary pH in the different trimesters of pregnancy.

    Science.gov (United States)

    Jain, Kanu; Kaur, Harshaminder

    2015-01-01

    Oral changes observed during pregnancy have been studied for many years, but their magnitude and frequency have not been stressed upon. This study was undertaken to assess the prevalence of oral lesions during different trimesters of pregnancy and their correlation with salivary pH change. The gingival, simplified oral hygiene, community periodontal and decayed-missing-filled teeth indices were used to assess a total of 120 pregnant women (40 in each trimester group) and 40 nonpregnant women (control group). Salivary pH was measured using a digital pH meter. Presence of any oral lesions was determined via oral examination. Scores for all indices increased while salivary pH decreased from the control group to the first trimester group, through to the third. Oral lesions were seen in 44.2% of pregnant women. Lesions were seen in 27.5%, 52.5% and 52.5% of women in the first, second and third trimesters, respectively. The percentage of pregnant women with one oral lesion was highest in the second trimester (47.5%), whereas the third trimester had the highest prevalence (17.5%) of two concurrent oral lesions. The incidence of fissured tongue was highest in the first trimester group, and that of gingival enlargement was highest in the third trimester group. In the second trimester group, there was an almost equal incidence of fissured tongue and gingival/mucosal enlargement. Most changes in oral tissues during pregnancy can be avoided with good oral hygiene. Salivary pH could be used to assess the prevalence of oral lesions in the different trimesters of pregnancy.

  19. Chromosomal rearrangements in Tourette syndrome

    DEFF Research Database (Denmark)

    Bertelsen, Birgitte; Debes, Nanette Mol; Hjermind, Lena E

    2013-01-01

    , and identification of susceptibility genes through linkage and association studies has been complicated due to inherent difficulties such as no clear mode of inheritance, genetic heterogeneity, and apparently incomplete penetrance. Positional cloning through mapping of disease-related chromosome rearrangements has...... been an efficient tool for the cloning of disease genes in several Mendelian disorders and in a number of complex disorders. Through cytogenetic investigation of 205 TS patients, we identified three possibly disease-associated chromosome rearrangements rendering this approach relevant in chasing TS...

  20. Chromosomal instability determines taxane response

    DEFF Research Database (Denmark)

    Swanton, C.; Nicke, B.; Schuett, M.

    2009-01-01

    chromosomal instability (CIN). Silencing 22/50 of these genes, many of which are involved in DNA repair, caused cancer cell death, suggesting that these genes are involved in the survival of aneuploid cells. Overexpression of these "CIN-survival'' genes is associated with poor outcome in estrogen receptor......-positive breast cancer and occurs frequently in basal-like and Her2-positive cases. In diploid cells, but not in chromosomally unstable cells, paclitaxel causes repression of CIN-survival genes, followed by cell death. In the OV01 ovarian cancer clinical trial, a high level of CIN was associated with taxane...

  1. Medical First-Trimester Termination of Pregnancy with Massive Fibroid Uterus

    Directory of Open Access Journals (Sweden)

    Michael Saad-Naguib

    2017-01-01

    Full Text Available First-trimester termination of pregnancy by medical or surgical route is highly effective with a low complication rate. Uterine abnormalities can complicate a procedure due to distortion of normal anatomy. In this case presentation, medical termination of pregnancy is performed using fetal intracardiac potassium chloride injection and intramuscular methotrexate.

  2. Pelaksanaan Antenatal Care Berhubungan dengan Anemia pada Kehamilan Trimester III di Puskesmas Sedayu I Yogyakarta

    Directory of Open Access Journals (Sweden)

    Fatimah Fatimah

    2015-11-01

    Full Text Available Anemia is one of the problems in Indonesia that important to examine, especially for pregnant women. This research used quantitative with explanatory design. Population were 44 pregnant women in 3 trimester selected by the total sampling technique. The independent variable were implementation of the antenatal care by midwives and dependent variable is anemia in 3 trimester of pregnancy at Puskesmas Sedayu I Yogyakarta. Data was collected using questionnaire. The analysis used was chi-square. The results of study showed that there was 33 (75% of antenatal care in good category, with no anemia were 32 (72.7% respondents, and there was a significant relationship between antenatal care and anemia in the third trimester of pregnancy with p-value=0.004. In conclusion, there was a significant relationship between antenatal care and anemia in the third trimester of pregnancy. Suggestions were needed to maintain and improve the care of midwives in antenatal care to improve the health of pregnant women, especially anemia in pregnancy.

  3. ORIGIN OF RAISED MATERNAL SERUM ALPHA-FETOPROTEIN LEVELS IN 2ND-TRIMESTER OLIGOHYDRAMNIOS

    NARCIS (Netherlands)

    LOS, FJ; BEEKHUIS, [No Value; MARRINK, J; HAGENAARS, AM; REUSS, A; SACHS, ES; JAHODA, MGJ; WLADIMIROFF, JW

    Concanavalin A (Con A) subtyping of alpha-fetoprotein (AFP) revealed higher concentrations of AFP non-reactive with Con A in sera of 12 pregnant women with second-trimester oligohydramnios and raised total serum AFP levels than in sera of 42 pregnant women with raised total serum AFP levels and a

  4. Pengetahuan Ibu Hamil Trimester III Tentang KB Pasca Persalinan di Puskesmas Jetis Kota, Yogyakarta

    Directory of Open Access Journals (Sweden)

    Nining Kurnia

    2015-03-01

    Full Text Available The population of Indonesia increased every year. The goverment makes family planning post delivery to press off Indonesian growth. In Yogyakarta family planning post delivery were used by 527 people, at Puskesmas Jetis were 167 women from 363 total target of pregnant women. A succession of this program influenced by knowledge and education. The purpose of this study was to know the knowledge level of pregnant women in trimester III about family planning post delivery at Puskesmas Jetis Yogyakarta. The methode of this study was descriptive quantitative with cross sectional design. The sample obtained by saturated sampling technique which consisted of 45 pregnant women trimester III. The data used univariate analysys. The results showed that most of pregnants women in trimester III was aged 20-35 years (77.7%, high school education (37.8%, and there was 51.1% of pregnant women in fair knowledge level. Most of pregnant women decides to used family planning injection post delivery (44.4%. In conclusion, the knowledge level of pregnant women in trimester III about family planning post delivery was mostly in fair knowledge level.

  5. Alcohol reduction in the first trimester is unrelated to smoking, patient or pregnancy characteristics

    Directory of Open Access Journals (Sweden)

    Kristen A. Schmidt

    2017-06-01

    Conclusions: Women reported reducing their alcohol consumption during pregnancy, including those screening positive for pre-pregnancy problem drinking. First trimester alcohol reduction cannot be accounted for by smoking, patient or pregnancy characteristics; public health initiatives, psychological factors and hormonal mechanisms may be implicated.

  6. Application of First Trimester Screening in the Prognostication of Small for Gestational Age

    Directory of Open Access Journals (Sweden)

    Reza Saeidi

    2018-05-01

    Full Text Available Background: Fetal growth restriction is defined as the failure of the fetus to achieve its full growth potential. The present study aimed to investigate the application of first trimester screening in the prediction of small for gestational age (SGA.Methods: This cohort study was conducted on the consecutive and unselected women with singleton pregnancies undergoing routine first-trimester examinations in a health center affiliated to Neyshabur University of Medical Sciences in Razavi Khorasan Iran during February 2014-March 2016. Subjects received a first-trimester visit by a physician, which included the entry of basic maternal characteristics, medical history, measurement of maternal weight and height, ultrasound examination for fetal anatomy, and measurement of crown-rump length to assess gestational age.Results: SGA was significantly correlated with maternal age, parity, and body mass index. Furthermore, a significant association was observed between SGA and smoking habits in the mothers.Conclusion: According to the results, first trimester screening was a useful method for the prediction of SGA.

  7. Fetal nasal bone length in the second trimester: comparison between population groups from different ethnic origins.

    Science.gov (United States)

    Papasozomenou, Panayiota; Athanasiadis, Apostolos P; Zafrakas, Menelaos; Panteris, Eleftherios; Loufopoulos, Aristoteles; Assimakopoulos, Efstratios; Tarlatzis, Basil C

    2016-03-01

    To compare normal ranges of ultrasonographically measured fetal nasal bone length in the second trimester between different ethnic groups. A prospective, non-interventional study in order to establish normal ranges of fetal nasal bone length in the second trimester in a Greek population was conducted in 1220 singleton fetuses between 18 completed weeks and 23 weeks and 6 days of gestation. A literature search followed in order to identify similar studies in different population groups. Fetal nasal bone length mean values and percentiles from different population groups were compared. Analysis of measurements in the Greek population showed a linear association, i.e., increasing nasal bone length with increasing gestational age from 5.73 mm at 18 weeks to 7.63 mm at 23 weeks. Eleven studies establishing normal ranges of fetal nasal bone length in the second trimester were identified. Comparison of fetal nasal bone length mean values between the 12 population groups showed statistically significant differences (Pdifferent ethnic groups. Hence, distinct ethnic nomograms of fetal nasal bone length in the second trimester should be used in a given population rather than an international model.

  8. Assessment of Cardiac Function in Fetuses of Gestational Diabetic Mothers During the Second Trimester.

    Science.gov (United States)

    Atiq, Mehnaz; Ikram, Anum; Hussain, Batool M; Saleem, Bakhtawar

    2017-06-01

    Fetuses of diabetic mothers may have structural or functional cardiac abnormalities which increase morbidity and mortality. Isolated functional abnormalities have been identified in the third trimester. The aim of the present study was to assess fetal cardiac function (systolic, diastolic, and global myocardial performance) in the second trimester in mothers with gestational diabetes, and also to relate cardiac function with glycemic control. Mothers with gestational diabetes mellitus referred for fetal cardiac evaluation in the second trimester (between 19 and 24 weeks) from March 2015 to February 2016 were enrolled as case subjects in this study. Non-diabetic mothers who had a fetal echocardiogram done between 19 and 24 weeks for other indications were enrolled as controls. Functional cardiac variables showed a statistically significant difference in isovolumetric relaxation and contraction times and the myocardial performance index and mitral E/A ratios in the gestational diabetic group (p = 0.003). Mitral annular plane systolic excursion was significantly less in the diabetic group (p = 0.01). The only functional cardiac variable found abnormal in mothers with poor glycemic control was the prolonged isovolumetric relaxation time. Functional cardiac abnormalities can be detected in the second trimester in fetuses of gestational diabetic mothers and timely intervention can improve postnatal outcomes.

  9. Facial profile markers in second- and third-trimester fetuses with trisomy 18

    NARCIS (Netherlands)

    Vos, F. I.; De Jong-Pleij, E. A P; Bakker, M.; Tromp, E.; Manten, G. T R; Bilardo, C. M.

    2015-01-01

    Objectives To evaluate nasal bone length (NBL), maxilla-nasion-mandible (MNM) angle, fetal profile (FP) line, prenasal thickness (PT), prenasal thickness to nasal bone length (PT:NBL) ratio and prefrontal space ratio (PFSR) as markers of trisomy 18 in the second and third trimesters of pregnancy.

  10. Placenta percreta causing acute abdomen in the second trimester of pregnancy

    International Nuclear Information System (INIS)

    Hussain, M.; Bhutta, S. Z.; Sarwar, S.

    2004-01-01

    Two cases of acute abdomen due to haemoperitoneum caused by placenta percreta in the second trimester are presented. Both had a history of previous lower segment caesarean section, a factor well-known to predispose the condition. How- ever, the rarity of the condition, presenting in mid pregnancy makes diagnosis and management difficult. Optimum ways of management are discussed. (author)

  11. Maternal serum laeverin (aminopeptidase Q) measured in the first trimester of pregnancy does not predict preeclampsia

    DEFF Research Database (Denmark)

    Pihl, Kasper; Sørensen, Steen; Nystad, Mona

    2018-01-01

    OBJECTIVE: The aim of this study was to compare the laeverin level in maternal serum from first trimester (11-14 weeks) of pregnancy between normal pregnancies and pregnancies that later developed preeclampsia (PE). MATERIAL AND METHODS: This was a case-cohort study. The laeverin concentration wa...

  12. Malaria and fetal growth alterations in the 3(rd) trimester of pregnancy

    DEFF Research Database (Denmark)

    Schmiegelow, Christentze; Minja, Daniel Thomas; Oesterholt, Mayke

    2013-01-01

    Pregnancy associated malaria is associated with decreased birth weight, but in-utero evaluation of fetal growth alterations is rarely performed. The objective of this study was to investigate malaria induced changes in fetal growth during the 3(rd) trimester using trans-abdominal ultrasound....

  13. Maternal leptin and body composition in the first trimester of pregnancy.

    LENUS (Irish Health Repository)

    Fattah, Chro

    2012-02-01

    BACKGROUND: Leptin is produced mainly by adipocytes. Levels are increased in women with obesity and during pregnancy. Increased levels are also associated with pregnancy complications such as, pre-eclampsia and gestational diabetes mellitus. OBJECTIVE: We studied what component of body composition correlated best with maternal leptin in the first trimester of pregnancy and, whether maternal leptin correlated better with visceral fat rather than fat distributed elsewhere. SUBJECTS AND METHODS: Women were recruited in the first trimester. Maternal adiposity was measured using body mass index and advanced bioelectrical impedance analysis. Maternal leptin was measured using an enzyme-linked immunosorbent assay technique. RESULTS: Of the 100 subjects studied, the mean leptin concentration was 37.7 ng\\/ml (range: 2.1-132.8). Leptin levels did not correlate with gestational age in the first trimester, maternal age, parity or birth weight. Serum leptin correlated positively with maternal weight and body mass index, and with the different parameters of body composition. On multiple regression analysis, serum leptin correlated with visceral fat but not fat distributed elsewhere. CONCLUSIONS: Visceral fat is the main determinant of circulating maternal leptin in the first trimester of pregnancy. This raises the possibility that maternal leptin in early pregnancy may be a marker for the development of metabolic syndrome, including diabetes mellitus.

  14. Cross-trimester repeated measures testing for Down's syndrome screening: an assessment.

    LENUS (Irish Health Repository)

    Wright, D

    2010-07-01

    To provide estimates and confidence intervals for the performance (detection and false-positive rates) of screening for Down\\'s syndrome using repeated measures of biochemical markers from first and second trimester maternal serum samples taken from the same woman.

  15. Maternal weight and body composition in the first trimester of pregnancy.

    LENUS (Irish Health Repository)

    Fattah, Chro

    2012-02-01

    OBJECTIVE: Previous studies on weight gain in pregnancy suggested that maternal weight on average increased by 0.5-2.0 kg in the first trimester of pregnancy. This study examined whether mean maternal weight or body composition changes in the first trimester of pregnancy. DESIGN: Prospective observational study. POPULATION: We studied 1,000 Caucasian women booking for antenatal care in the first trimester of pregnancy. SETTING: Large university teaching hospital. METHODS: Maternal height and weight were measured digitally in a standardized way and Body Mass Index (BMI) was calculated. Maternal body composition was measured using segmental multifrequency Bioelectrical Impedance Analysis (BIA). Sonographic examination confirmed the gestational age and a normal ongoing singleton pregnancy in all subjects. MAIN OUTCOME MEASURES: Maternal weight, maternal body composition. RESULTS: The mean BMI was 25.7 kg\\/m(2) and 19.0% of the women were in the obese category (> or =30.0 kg\\/m(2)). Cross-sectional analysis by gestational age showed that there was no change in mean maternal weight, BMI, total body water, fat mass, fat-free mass or bone mass before 14 weeks gestation. CONCLUSIONS: Contrary to previous reports, mean maternal weight and mean body composition values remain unchanged in the first trimester of pregnancy. This has implications for guidelines on maternal weight gain during pregnancy. We also recommend that calculation of BMI in pregnancy and gestational weight gain should be based on accurate early pregnancy measurements, and not on self-reported or prepregnancy measurements.

  16. MULTISCAN--a Scandinavian multicenter second trimester obstetric ultrasound and serum screening study

    DEFF Research Database (Denmark)

    Jørgensen, F S; Valentin, L; Salvesen, K A

    1999-01-01

    AIM: To study the detection rates of second trimester ultrasound screening for neural tube defects (NTD), abdominal wall defects (AWD) and Down's syndrome (DS) in low risk populations at tertiary centers, and to compare the ultrasound screening detection rates with those that were obtainable by b...

  17. Actualization regarding genetic sonographic markers in the 1 trimester of pregnancy

    International Nuclear Information System (INIS)

    Trull Martinez, Felicia Amaralis; Pimentel Benitez, Hector; Garcia Borrego, Aniorland; Medina Ali, Frank Ernesto

    2010-01-01

    The topic of sonographic markers in the first trimester of pregnancy is reviewed, in order to provide an update. The predictive markers on the most frequent congenital anomalies are emphasized. It was concluded with important aspects that should be considered for a correct interpretation of these findings

  18. Comparison of two dose regimens of misoprostol for second-trimester pregnancy termination

    NARCIS (Netherlands)

    Brouns, Joseph Franciscus Gertrudis Maria; van Wely, Madelon; Burger, Mattheus Petrus Maria; van Wijngaarden, Willem Jacobus

    2010-01-01

    Objective: The study was conducted to compare the efficacy of two different dose regimens of misoprostol administered vaginally in combination with mifepristone for second trimester termination of viable and non-viable pregnancies. Design: Double-blind randomized controlled trial conducted at the

  19. First trimester screening for Down syndrome and assisted reproduction: no basis for concern

    DEFF Research Database (Denmark)

    Wøjdemann, K R; Larsen, S O; Shalmi, A

    2001-01-01

    In pregnancies obtained after assisted reproduction the false-positive rate of second trimester Down syndrome (DS) screening is increased by 1.5-3-fold. This may cause an increase in the number of amniocenteses and the fetal loss rate. The present study for the first time examined whether assiste...

  20. Down syndroom kansbepaling met de eerste trimester combinatietest 2002-2004

    NARCIS (Netherlands)

    Schielen PCJI; Leeuwen M van; Elvers LH; Loeber JG; LIS

    2007-01-01

    Here, the first evaluation is presented of the first-trimester combined test screening carried out in the Netherlands among pregnant women to determine the chance of the baby being born with Down's syndrome. The screening, commissioned by the Health Care Inspectorate of the Dutch Ministry of Health,

  1. Outcome of infants presenting with echogenic bowel in the second trimester of pregnancy

    NARCIS (Netherlands)

    Buiter, Hannah D.; Scholtenhuis, Marloes A. G. Holswilder-Olde; Bouman, Katelijne; van Baren, Robertine; Bilardo, Caterina M.; Bos, Arend F.

    Objective Fetal echogenic bowel (FEB) is a soft marker found on second trimester sonography. Our main aim was to determine the outcome of infants who presented with FEB and secondarily to identify additional sonographic findings that might have clinical relevance for the prognosis. Design We

  2. First-trimester screening markers are altered in pregnancies conceived after IVF/ICSI

    DEFF Research Database (Denmark)

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

    2009-01-01

    .0%). CONCLUSIONS: It seems advisable to use a population of IVF/ICSI pregnancies to establish median curves for the first-trimester serum screening parameters and perhaps also for nuchal translucency thickness. However, care must be taken, as different ART treatment methods and aspects of medical history seem...

  3. Maternal first-trimester diet and childhood bone mass: The Generation R Study

    NARCIS (Netherlands)

    D.H.M. Heppe (Denise); M.C. Medina-Gomez (Carolina); A. Hofman (Albert); O.H. Franco (Oscar); F. Rivadeneira Ramirez (Fernando); V.W.V. Jaddoe (Vincent)

    2013-01-01

    textabstractBackground: Maternal diet during pregnancy has been suggested to influence bone health in later life. Objective: We assessed the association of maternal first-trimester dietary intake during pregnancy with childhood bone mass. Design: In a prospective cohort study in 2819 mothers and

  4. Second-trimester cervical length as risk indicator for Cesarean delivery in women with twin pregnancy

    NARCIS (Netherlands)

    Van de Mheen, L.; Schuit, E.; Liem, S. M. S.; Lim, A. C.; Bekedam, D. J.; Goossens, S. M. T. A.; Franssen, M. T. M.; Porath, M. M.; Oudijk, M. A.; Bloemenkamp, K. W. M.; Duvekot, J. J.; Woiski, M. D.; De Graaf, I.; Sikkema, J. M.; Scheepers, H. C. J.; Van Eijk, J.; De Groot, C. J. M.; Van Pampus, M. G.; Mol, B. W. J.

    2015-01-01

    Objective To determine whether second-trimester cervical length (CL) in women with a twin pregnancy is associated with the risk of emergency Cesarean section. Methods This was a secondary analysis of two randomized trials conducted in 57 hospitals in The Netherlands. We assessed the univariable

  5. Role of Chromosome Changes in Evolution and Diversity

    Directory of Open Access Journals (Sweden)

    Kornsorn Srikulnath

    2015-12-01

    Full Text Available The karyotypes of most species of crocodilians were studied using conventional and molecular cytogenetics. These provided an important contribution of chromosomal rearrangements for the evolutionary processes of Crocodylia and Sauropsida (birds and reptiles. The karyotypic features of crocodilians contain small diploid chromosome numbers (30~42, with little interspecific variation of the chromosome arm number (fundamental number among crocodiles (56~60. This suggested that centric fusion and/or fission events occurred in the lineage, leading to crocodilian evolution and diversity. The chromosome numbers of Alligator, Caiman, Melanosuchus, Paleosuchus, Gavialis, Tomistoma, Mecistops, and Osteolaemus were stable within each genus, whereas those of Crocodylus (crocodylians varied within the taxa. This agreed with molecular phylogeny that suggested a highly recent radiation of Crocodylus species. Karyotype analysis also suggests the direction of molecular phylogenetic placement among Crocodylus species and their migration from the Indo-Pacific to Africa and The New World. Crocodylus species originated from an ancestor in the Indo-Pacific around 9~16 million years ago (MYA in the mid-Miocene, with a rapid radiation and dispersion into Africa 8~12 MYA. This was followed by a trans-Atlantic dispersion to the New World between 4~8 MYA in the Pliocene. The chromosomes provided a better understanding of crocodilian evolution and diversity, which will be useful for further study of the genome evolution in Crocodylia.

  6. The DNA sequence and biology of human chromosome 19

    Energy Technology Data Exchange (ETDEWEB)

    Grimwood, J; Gordon, L A; Olsen, A; Terry, A; Schmutz, J; Lamerdin, J; Hellsten, U; Goodstein, D; Couronne, O; Tran-Gyamfi, M

    2004-04-06

    Chromosome 19 has the highest gene density of all human chromosomes, more than double the genome-wide average. The large clustered gene families, corresponding high GC content, CpG islands and density of repetitive DNA indicate a chromosome rich in biological and evolutionary significance. Here we describe 55.8 million base pairs of highly accurate finished sequence representing 99.9% of the euchromatin portion of the chromosome. Manual curation of gene loci reveals 1,461 protein-coding genes and 321 pseudogenes. Among these are genes directly implicated in Mendelian disorders, including familial hypercholesterolemia and insulin-resistant diabetes. Nearly one quarter of these genes belong to tandemly arranged families, encompassing more than 25% of the chromosome. Comparative analyses show a fascinating picture of conservation and divergence, revealing large blocks of gene orthology with rodents, scattered regions with more recent gene family expansions and deletions, and segments of coding and non-coding conservation with the distant fish species Takifugu.

  7. Y Fuse? Sex Chromosome Fusions in Fishes and Reptiles

    Science.gov (United States)

    Vamosi, Jana C.; Peichel, Catherine L.; Valenzuela, Nicole; Kitano, Jun

    2015-01-01

    Chromosomal fusion plays a recurring role in the evolution of adaptations and reproductive isolation among species, yet little is known of the evolutionary drivers of chromosomal fusions. Because sex chromosomes (X and Y in male heterogametic systems, Z and W in female heterogametic systems) differ in their selective, mutational, and demographic environments, those differences provide a unique opportunity to dissect the evolutionary forces that drive chromosomal fusions. We estimate the rate at which fusions between sex chromosomes and autosomes become established across the phylogenies of both fishes and squamate reptiles. Both the incidence among extant species and the establishment rate of Y-autosome fusions is much higher than for X-autosome, Z-autosome, or W-autosome fusions. Using population genetic models, we show that this pattern cannot be reconciled with many standard explanations for the spread of fusions. In particular, direct selection acting on fusions or sexually antagonistic selection cannot, on their own, account for the predominance of Y-autosome fusions. The most plausible explanation for the observed data seems to be (a) that fusions are slightly deleterious, and (b) that the mutation rate is male-biased or the reproductive sex ratio is female-biased. We identify other combinations of evolutionary forces that might in principle account for the data although they appear less likely. Our results shed light on the processes that drive structural changes throughout the genome. PMID:25993542

  8. Preparation of single rice chromosome for construction of a DNA library using a laser microbeam trap.

    Science.gov (United States)

    Liu, Xiaohui; Wang, Haowei; Li, Yinmei; Tang, Yesheng; Liu, Yilei; Hu, Xin; Jia, Peixin; Ying, Kai; Feng, Qi; Guan, Jianping; Jin, Chaoqing; Zhang, Lei; Lou, Liren; Zhou, Zhuan; Han, Bin

    2004-04-29

    We report the development of a laser micromanipulation system and its application in the isolation of individual rice chromosomes directly from a metaphase cell. Microdissection and flow sorting are two major methods for the isolation of single chromosome. These methods are dependent on the techniques of chromosome spread and chromosome suspension, respectively. In the development of this system, we avoided using chromosome spread and cell suspension was used instead. The cell wall of metaphase rice cell was cut by optical scissors. The released single chromosome was captured by an optical trap and transported to an area without cell debris. The isolated single chromosome was then collected and specific library was constructed by linker adaptor PCR. The average insert size of the library was about 300 bp. Two hundred inserts of chromosome 4 library were sequenced, and 96.5% were aligned to the corresponding sequences of rice chromosome 4. These results suggest the possible application of this method for the preparation of other subcellular structures and for the cloning of single macromolecule through a laser microbeam trap.

  9. A role for a neo-sex chromosome in stickleback speciation

    Science.gov (United States)

    Kitano, Jun; Ross, Joseph A.; Mori, Seiichi; Kume, Manabu; Jones, Felicity C.; Chan, Yingguang F.; Absher, Devin M.; Grimwood, Jane; Schmutz, Jeremy; Myers, Richard M.; Kingsley, David M.; Peichel, Catherine L.

    2009-01-01

    Sexual antagonism, or conflict between the sexes, has been proposed as a driving force in both sex chromosome turnover and speciation. Although closely related species often have different sex chromosome systems, it is unknown whether sex chromosome turnover contributes to the evolution of reproductive isolation between species. In this study, we show that a newly evolved sex chromosome harbours genes that contribute to speciation in threespine stickleback fish (Gasterosteus aculeatus). We first identified a neo-sex chromosome system found only in one member of a sympatric species pair in Japan. We then performed genetic linkage mapping of male-specific traits important for reproductive isolation between the Japanese species pair. The neo-X chromosome harbours loci for male courtship display traits that contribute to behavioural isolation, while the ancestral X chromosome contains loci for both behavioural isolation and hybrid male sterility. Our work not only provides strong evidence for a large-X effect on reproductive isolation in a vertebrate system, but also provides direct evidence that a young neo-X chromosome contributes to reproductive isolation between closely related species. Our data suggest that sex chromosome turnover might play a greater role in speciation than previously appreciated. PMID:19783981

  10. Third Trimester Brain Growth in Preterm Infants Compared With In Utero Healthy Fetuses.

    Science.gov (United States)

    Bouyssi-Kobar, Marine; du Plessis, Adré J; McCarter, Robert; Brossard-Racine, Marie; Murnick, Jonathan; Tinkleman, Laura; Robertson, Richard L; Limperopoulos, Catherine

    2016-11-01

    Compared with term infants, preterm infants have impaired brain development at term-equivalent age, even in the absence of structural brain injury. However, details regarding the onset and progression of impaired preterm brain development over the third trimester are unknown. Our primary objective was to compare third-trimester brain volumes and brain growth trajectories in ex utero preterm infants without structural brain injury and in healthy in utero fetuses. As a secondary objective, we examined risk factors associated with brain volumes in preterm infants over the third-trimester postconception. Preterm infants born before 32 weeks of gestational age (GA) and weighing <1500 g with no evidence of structural brain injury on conventional MRI and healthy pregnant women were prospectively recruited. Anatomic T2-weighted brain images of preterm infants and healthy fetuses were parcellated into the following regions: cerebrum, cerebellum, brainstem, and intracranial cavity. We studied 205 participants (75 preterm infants and 130 healthy control fetuses) between 27 and 39 weeks' GA. Third-trimester brain volumes were reduced and brain growth trajectories were slower in the ex utero preterm group compared with the in utero healthy fetuses in the cerebrum, cerebellum, brainstem, and intracranial cavity. Clinical risk factors associated with reduced brain volumes included dexamethasone treatment, the presence of extra-axial blood on brain MRI, confirmed sepsis, and duration of oxygen support. These preterm infants exhibited impaired third-trimester global and regional brain growth in the absence of cerebral/cerebellar parenchymal injury detected by using conventional MRI. Copyright © 2016 by the American Academy of Pediatrics.

  11. An economic evaluation of first-trimester genetic sonography for prenatal detection of Down syndrome.

    Science.gov (United States)

    Vintzileos, A M; Ananth, C V; Fisher, A J; Smulian, J C; Day-Salvatore, D; Beazoglou, T

    1998-04-01

    To determine 1) the diagnostic accuracy requirements of first-trimester genetic sonography from the cost-benefit point of view and 2) the economic impact of first-trimester genetic sonography for the United States on the basis of the accuracy of previously published studies. A cost-benefit equation was developed on the basis of the hypothesis that the cost of chorionic villus sampling (CVS) in pregnant women with advanced maternal age (at least 35 years old) should be at least equal to the cost of genetic sonography with CVS used only for those with abnormal ultrasound results. The components of the equation included the diagnostic accuracy of genetic ultrasound (sensitivity and specificity for detecting Down syndrome), the costs of the CVS package and genetic ultrasound, and the lifetime cost of Down syndrome cases. First-trimester genetic sonography was found to be beneficial if the overall sensitivity for detecting Down syndrome was greater than 70%, and even then, the cost-benefit ratio depended on the corresponding false-positive rate. The required minimum ultrasound sensitivity varied according to the maternal age-specific prevalence of Down syndrome and ranged between 40% (for women 35 years old) to 96% (for women 44 years old). Of eight published cohorts using nuchal translucency thickness for genetic sonography, five had accuracies of genetic ultrasound compatible with net benefits. The benefits of first-trimester genetic sonography depend on its diagnostic accuracy. First-trimester genetic sonography has the potential for annual savings of 22 million dollars in the United States.

  12. Lupus anticoagulant, disease activity and low complement in the first trimester are predictive of pregnancy loss.

    Science.gov (United States)

    Mankee, Anil; Petri, Michelle; Magder, Laurence S

    2015-01-01

    Multiple factors, including proteinuria, antiphospholipid syndrome, thrombocytopenia and hypertension, are predictive of pregnancy loss in systemic lupus erythematosus (SLE). In the PROMISSE study of predictors of pregnancy loss, only a battery of lupus anticoagulant tests was predictive of a composite of adverse pregnancy outcomes. We examined the predictive value of one baseline lupus anticoagulant test (dilute Russell viper venom time) with pregnancy loss in women with SLE. From the Hopkins Lupus Cohort, there were 202 pregnancies from 175 different women after excluding twin pregnancies and pregnancies for which we did not have a first trimester assessment of lupus anticoagulant. We determined the percentage of women who had a pregnancy loss in groups defined by potential risk factors. The lupus anticoagulant was determined by dilute Russell viper venom time with appropriate mixing and confirmatory testing. Generalised estimating equations were used to calculate p values, accounting for repeated pregnancies in the same woman. The age at pregnancy was 40 (3%). 55% were Caucasian and 34% African-American. Among those with lupus anticoagulant during the first trimester, 6/16 (38%) experienced a pregnancy loss compared with only 16/186 (9%) of other pregnancies (p=0.003). In addition, those with low complement or higher disease activity had a higher rate of pregnancy loss than those without (p=0.049 and 0.005, respectively). In contrast, there was no association between elevated anticardiolipin in the first trimester and pregnancy loss. The strongest predictor of pregnancy loss in SLE in the first trimester is the lupus anticoagulant. In addition, moderate disease activity by the physician global assessment and low complement measured in the first trimester were predictive of pregnancy loss. These data suggest that treatment of the lupus anticoagulant could be considered, even in the absence of history of pregnancy loss.

  13. [Bacterial flora in the genital tract the last trimester of pregnancy].

    Science.gov (United States)

    Balaka, B; Agbèrè, A D; Baeta, S; Kessie, K; Assimadi, K

    2003-10-01

    Very widespread in our clinical setting, early-onset sepsis is due to organisms that commonly colonize or infect the maternal genital tract; identifying such organisms would help improve prevention and treatment. To determine the bacterial ecology and the pathological status of the genital organs during the last trimester of pregnancy, in order to evaluate the risk of materno-fetal infections and to improve the present prophylactic measures based on monitoring bacterial carriage during the first trimester. Vaginal and endocervical samples, usually taken during the first trimester of pregnancy were delayed and taken during the last trimester of pregnancy, in patients with no signs of sepsis and not taking antibiotics. A macroscopic examination described the aspect of the vagina, the cervix uteri, leukorrhea and possible inflammatory lesions or ulcerations. A microscopic examination searched for parasites, epithelial cells, Clue cells and leukocytes. The appropriate bacteriological cultures were performed after reading the Gram stain and scoring the vaginal flora. The clinical and cytobacteriological aspects were used to identify the bacterial ecology and the pathological genital states. Genital samples were collected from 306 pregnant women. Among them 118 were at 29-32 weeks of gestation, 104 at 33-36 and 84 at 37-40. The most frequent germs were C. albicans (33.3%), Enterobacteriaceae (20.3%) including E. coli (10.9%), S. aureus (15.4%), Gardnerella (13.6%), and Trichomonas (10.6%), in monomicrobian (79.2%) or polymicrobian carriage (20.8%). Lower genital tract pathological states such as vaginitis (29.4%), bacterial vaginosis (21.5%) or cervicitis (10.4%) and asymptomatic bacterial carriage (23.5%) and normal genital flora (15%) were identified. This is the first report of genital bacterial carriage in African women during the last trimester of pregnancy. Larger studies are required to evaluate the risk of maternofetal infections and to improve current

  14. First and second trimester maternal serum inhibin A levels in twins with pre-eclampsia.

    Science.gov (United States)

    Svirsky, Ran; Maymon, Ron; Melcer, Yaakov; Klog, Esther; Cuckle, Howard

    2016-11-01

    To investigate maternal serum inhibin as a marker of pre-eclampsia (PE) in twins. One hundred forty-three twins and 109 unaffected singleton pregnancies were recruited in the first trimester from the same institution. Blood samples were stored at recruitment and in the second trimester, retrospectively tested for inhibin and values expressed in multiples of the gestation-specific median (MoMs) in singletons, adjusted for maternal weight, as appropriate. The median inhibin level in unaffected twins was 2.04 MoM compared with 1.00 MoM in singletons (P < 0.0001, Wilcoxon Rank Sum Test, one-tailed). Excluding early fetal losses the median in 22 samples from 12 twins with PE was 2.65 MoM compared with 1.99 MoM in 201 samples from 120 unaffected twins (P < 0.02, Wilcoxon Rank Sum Test). This effect was restricted to second trimester samples with medians in cases and controls of 2.86 and 1.91 MoM respectively. Logistic regression of inhibin A together with established PE marker placental growth factor and placental associated plasma protein showed that in the second trimester, it improved screening performance although not reaching statistical significance (P = 0.08). Inhibin A is a potential second trimester marker of PE in twins. It may improve on existing twin screening protocols but more data are required. © 2016 John Wiley & Sons, Ltd. © 2016 John Wiley & Sons, Ltd.

  15. Routine Iron Supplementation and Anaemia by Third Trimester in a Nigerian Hospital.

    Science.gov (United States)

    Adanikin, Abiodun I; Awoleke, Jacob O; Olofinbiyi, Babatunde A; Adanikin, Pipeloluwa O; Ogundare, Omobolanle R

    2015-10-01

    Anaemia in pregnancy is associated with adverse maternal and fetal outcome. Unfortunately, in developing countries its prevalence has continued to rise. To improve the situation, iron supplement is routinely prescribed during pregnancy. We therefore examine the impact of the intervention as being currently practised in our clinical setting. In total, 255 prenatal clinic attendees who had more than 8 weeks of prescribed iron supplements were sampled. Data was obtained on their socio-demographic features, haemoglobin concentration at booking, compliance with iron supplements and third trimester haemoglobin value. Observed iron supplementation compliance rate was 184(72.2%). There was a significant drop in mean haemoglobin (Hb) concentration between the two time points (booking Hb: 32.56±2.99; third trimester Hb: 31.67±3.01; mean diff: 0.89±3.04; t = 4.673; 95% CI= 0.52-1.27; p= Anaemia increased from 132(51.8%) to 150(58.8%) by the third trimester. Increase in anaemia occurred in both iron-compliant and non-compliant groups. Non-compliance however had higher odds of predicting anaemia by the third trimester (OR: 1.83; 95% CI: 1.03-3.26; p: 0.04). Although iron supplementation is still a good intervention in developing countries, it is not sufficient to reduce overall prevalence of anaemia by the third trimester. There is a need to look beyond the approach and reinforce the importance of better feeding practices, food fortification and reduced frequency of pregnancies.

  16. Maternal first-trimester dietary intake and childhood blood pressure: the Generation R Study.

    Science.gov (United States)

    van den Hil, Leontine C L; Rob Taal, H; de Jonge, Layla L; Heppe, Denise H M; Steegers, Eric A P; Hofman, Albert; van der Heijden, Albert J; Jaddoe, Vincent W V

    2013-10-01

    Suboptimal maternal dietary intake during pregnancy might lead to fetal cardiovascular adaptations and higher blood pressure in the offspring. The aim of the present study was to investigate the associations of maternal first-trimester dietary intake with blood pressure in children at the age of 6 years. We assessed first-trimester maternal daily dietary intake by a FFQ and measured folate, homocysteine and vitamin B₁₂ concentrations in the blood, in a population-based prospective cohort study among 2863 mothers and children. Childhood systolic and diastolic blood pressure was measured using a validated automatic sphygmomanometer. First-trimester maternal daily intake of energy, fat, protein and carbohydrate was not associated with childhood blood pressure. Furthermore, maternal intake of micronutrients was not associated with childhood blood pressure. Also, higher maternal vitamin B₁₂ concentrations were associated with a higher diastolic blood pressure (0·31 mmHg per standard deviation increase in vitamin B₁₂ (95% CI 0·06, 0·56)). After taking into account multiple testing, none of the associations was statistically significant. Maternal first-trimester folate and homocysteine concentrations were not associated with childhood blood pressure. The results from the present study suggest that maternal Fe intake and vitamin B₁₂ concentrations during the first trimester of pregnancy might affect childhood blood pressure, although the effect estimates were small and were not significant after correction for multiple testing. Further studies are needed to replicate these findings, to elucidate the underlying mechanisms and to assess whether these differences in blood pressure persist in later life.

  17. Genetics Home Reference: ring chromosome 20 syndrome

    Science.gov (United States)

    ... drugs. Prolonged seizure episodes known as non-convulsive status epilepticus also appear to be characteristic of ring chromosome ... K, Takahashi Y. Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome. Brain. 1997 Jun;120 ( ...

  18. Chromosomal disorders and male infertility

    Institute of Scientific and Technical Information of China (English)

    Gary L Harton; Helen G Tempest

    2012-01-01

    infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family.Despite this,the molecular and genetic factors underlying the cause of infertility remain largely undiscovered.Nevertheless,more and more genetic factors associated with infertility are being identified.This review will focus on our current understanding of the chromosomal basis of male infertility specifically:chromosomal aneuploidy,structural and numerical karyotype abnormalities and Y chromosomal microdeletions.Chromosomal aneuploidy is the leading cause of pregnancy loss and developmental disabilities in humans.Aneuploidy is predominantly maternal in origin,but concerns have been raised regarding the safety of intracytoplasmic sperm injection as infertile men have significantly higher levels of sperm aneuploidy compared to their fertile counterparts.Males with numerical or structural karyotype abnormalities are also at an increased risk of producing aneuploid sperm.Our current understanding of how sperm aneuploidy translates to embryo aneuploidy will be reviewed,as well as the application of preimplantation genetic diagnosis (PGD) in such cases.Clinical recommendations where possible will be made,as well as discussion of the use of emerging array technology in PGD and its potential applications in male infertility.

  19. Chromosomal Abnormalities Associated With Omphalocele

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2007-03-01

    Full Text Available Fetuses with omphalocele have an increased risk for chromosomal abnormalities. The risk varies with maternal age, gestational age at diagnosis, association with umbilical cord cysts, complexity of associated anomalies, and the contents of omphalocele. There is considerable evidence that genetics contributes to the etiology of omphalocele. This article provides an overview of chromosomal abnormalities associated with omphalocele and a comprehensive review of associated full aneuploidy such as trisomy 18, trisomy 13, triploidy, trisomy 21, 45,X, 47,XXY, and 47,XXX, partial aneuploidy such as dup(3q, dup(11p, inv(11, dup(1q, del(1q, dup(4q, dup(5p, dup(6q, del(9p, dup(15q, dup(17q, Pallister-Killian syndrome with mosaic tetrasomy 12p and Miller-Dieker lissencephaly syndrome with deletion of 17p13.3, and uniparental disomy (UPD such as UPD 11 and UPD 14. Omphalocele is a prominent marker for chromosomal abnormalities. Perinatal identification of omphalocele should alert chromosomal abnormalities and familial unbalanced translocations, and prompt thorough cytogenetic investigations and genetic counseling.

  20. CHROMOSOMAL MULTIPLICITY IN BURKHOLDERIA CEPACIA

    Science.gov (United States)

    We have used CHEF gel electrophoresis to screen preparations of large DNA from different Burkholderia cepacia isolates for the presence of DNA species corresponding to the linearized forms of the three chromosomes of 3.4,2.5, and 0.9 Mb identified in B. cepacia strain 17616. DNA ...

  1. B chromosomes are more frequent in mammals with acrocentric karyotypes: support for the theory of centromeric drive.

    Science.gov (United States)

    Palestis, Brian G; Burt, Austin; Jones, R Neil; Trivers, Robert

    2004-02-07

    The chromosomes of mammals tend to be either mostly acrocentric (having one long arm) or mostly bi-armed, with few species having intermediate karyotypes. The theory of centromeric drive suggests that this observation reflects a bias during female meiosis, favouring either more centromeres or fewer, and that the direction of this bias changes frequently over evolutionary time. B chromosomes are selfish genetic elements found in some individuals within some species. B chromosomes are often harmful, but persist because they drive (i.e. they are transmitted more frequently than expected). We predicted that species with mainly acrocentric chromosomes would be more likely to harbour B chromosomes than those with mainly bi-armed chromosomes, because female meiosis would favour more centromeres over fewer in species with one-armed chromosomes. Our results show that B chromosomes are indeed more common in species with acrocentric chromosomes, across all mammals, among rodents, among non-rodents and in a test of independent taxonomic contrasts. These results provide independent evidence supporting the theory of centromeric drive and also help to explain the distribution of selfish DNA across species. In addition, we demonstrate an association between the shape of the B chromosomes and the shape of the typical ('A') chromosomes.

  2. Magnitude and determinants of inadequate third-trimester weight gain in rural Bangladesh

    Science.gov (United States)

    Hasan, S. M. Tafsir; Rahman, Sabuktagin; Locks, Lindsey Mina; Rahman, Mizanur; Hore, Samar Kumar; Saqeeb, Kazi Nazmus; Khan, Md. Alfazal

    2018-01-01

    Objectives The objective of this study was to estimate the magnitude and determinants of inadequate weight gain in the third-trimester among rural women in Matlab, Bangladesh. Methods The study analyzed data on weight gain in the third trimester in 1,883 pregnant women in Matlab, Bangladesh. All these women were admitted to Matlab hospital of the International Centre for Diarrhoeal Disease Research, Bangladesh (icddr,b) for childbirth during 2012–2014, and they had singleton live births at term. Data were retrieved from the electronic databases of Matlab Health and Demographic Surveillance System and Matlab hospital. A multivariable logistic regression for inadequate weight gain in the third trimester (≤4 kg) was built with sociodemographic, environmental and maternal factors as predictors. Results One thousand and twenty-six (54%) pregnant women had inadequate weight gain in the third trimester. In the multivariable model, short stature turned out to be the most robust risk factor for inadequate weight gain in the third trimester (OR = 2.5; 95% CI 1.8, 3.5 for short compared to tall women). Pre-third-trimester BMI was inversely associated with insufficient weight gain (OR = 0.96; 95% CI 0.93, 0.99 for 1 unit increase in BMI). Other risk factors for inadequate weight gain in the third trimester were advanced age (OR = 1.9; 95% CI 1.2, 3.1 for ≥35 years compared to ≤19 years), parity (OR = 1.5; 95% CI 1.2, 1.9 for multipara compared to nulliparous women), low socioeconomic status (OR = 1.7; 95% CI 1.2, 2.3 for women in the lowest compared to women in the highest wealth quintile), low level of education (OR = 1.6; 95% CI 1.2, 2.1 for ≤5 years compared to ≥10 years of education), belonging to the Hindu religious community (OR = 1.8; 95% CI 1.3, 2.5), consuming arsenic-contaminated water (OR = 1.4; 95% CI 1.1, 1.9), and conceiving during monsoon or dry season compared to summer (OR = 1.4; 95% CI 1.1, 1.8). Conclusions Among rural Bangladeshi women in Matlab

  3. Chromosomal Evolution in Lower Vertebrates: Sex Chromosomes in Neotropical Fishes

    Czech Academy of Sciences Publication Activity Database

    Cioffi, M. de B.; Yano, C. F.; Sember, Alexandr; Bertollo, L.A.C.

    2017-01-01

    Roč. 8, č. 10 (2017), č. článku 258. ISSN 2073-4425 R&D Projects: GA MŠk EF15_003/0000460 Institutional support: RVO:67985904 Keywords : alternative evolutionary models * simple and multiple sex chromosomes * independent and common origins Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Genetics and heredity (medical genetics to be 3) Impact factor: 3.600, year: 2016

  4. Placenta Increta after First-Trimester Dilatation and Curettage Manifesting as an Unusual Uterine Mass: Magnetic Resonance Findings

    Energy Technology Data Exchange (ETDEWEB)

    Ju, W.; Kim, S.C. [Dept. of Obstetrics and Gynecology, and Medical Research Inst., School of Medicine, Ewha Womens Univ., Seoul (Korea)

    2007-10-15

    Placenta increta during the first trimester of pregnancy is extremely rare. Only a few cases of placenta accreta during the latter half of pregnancy manifesting as a uterine mass have been published. This report describes a case of placenta increta that caused prolonged bleeding after a first-trimester abortion, and was identified by magnetic resonance imaging (MRI) as a heterogeneous mass in the myometrium. This is the first report of a placenta increta detected as a uterine mass after first-trimester dilatation and curettage, and its MRI findings.

  5. Microdissection and Chromosome Painting of the Alien Chromosome in an Addition Line of Wheat - Thinopyrum intermedium

    Science.gov (United States)

    Yin, Weibo; Zhang, Yingxin; Chen, Yuhong; Wang, Richard R.-C.; Zhang, Xiangqi; Han, Fangpu; Hu, Zanmin

    2013-01-01

    In this study, chromosome painting was developed and used to identify alien chromosomes in TAi-27, a wheat - Thinopyrum intermedium addition line, and the chromosomes of the three different genomes of Th. Intermedium. The smallest alien chromosome of TAi-27 was microdissected and its DNA amplified by DOP-PCR was used as a probe to hybridize with metaphase chromosomes of TAi-27 and Th . intermedium . Results showed that hybridization signals were observed in all regions of a pair of the smallest alien chromosomes and the pericentromeric area of another pair of alien chromosomes in TAi-27, indicating that the probe from microdissected chromosome is species specific. In Th . intermedium , 14 chromosomes had wide and strong hybridization signals distributed mainly on the pericentromere area and 9 chromosomes with narrow and weak signals on the pericentromere area. The remaining chromosomes displayed a very weak or no signal. Sequential FISH/GISH on Th . intermedium chromosomes using the DNAs of microdissected chromosome, Pseudoroegneria spicata (St genome) and pDbH12 (a Js genome specific probe) as the probes indicated that the microdissected chromosome belonged to the St genome, three genomes (Js, J and St) in Th . intermedium could be distinguished, in which there is no hybridization signal on J genome that is similar to the genome of Th . bessarabicum . Our results showed that the smallest alien chromosomes may represent a truncated chromosome and the repetitive sequence distribution might be similar in different chromosomes within the St genome. However, the repetitive sequence distributions are different within the Js genome, within a single chromosome, and among different genomes in Th . intermedium . Our results suggested that chromosome painting could be feasible in some plants and useful in detecting chromosome variation and repetitive sequence distribution in different genomes of polyploidy plants, which is helpful for understanding the evolution of different

  6. A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs and/or possible chromosome 5p chromothripsis.

    Directory of Open Access Journals (Sweden)

    Heng Gu

    Full Text Available Cri-du-Chat syndrome (MIM 123450 is a chromosomal syndrome characterized by the characteristic features, including cat-like cry and chromosome 5p deletions. We report a family with five individuals showing chromosomal rearrangements involving 5p, resulting from rare maternal complex chromosomal rearrangements (CCRs, diagnosed post- and pre-natally by comprehensive molecular and cytogenetic analyses. Two probands, including a 4½-year-old brother and his 2½-year- old sister, showed no diagnostic cat cry during infancy, but presented with developmental delay, dysmorphic and autistic features. Both patients had an interstitial deletion del(5(p13.3p15.33 spanning ≈ 26.22 Mb. The phenotypically normal mother had de novo CCRs involving 11 breakpoints and three chromosomes: ins(11;5 (q23;p14.1p15.31,ins(21;5(q21;p13.3p14.1,ins(21;5(q21;p15.31p15.33,inv(7(p22q32dn. In addition to these two children, she had three first-trimester miscarriages, two terminations due to the identification of the 5p deletion and one delivery of a phenotypically normal daughter. The unaffected daughter had the maternal ins(11;5 identified prenatally and an identical maternal allele haplotype of 5p. Array CGH did not detect any copy number changes in the mother, and revealed three interstitial deletions within 5p15.33-p13.3, in the unaffected daughter, likely products of the maternal insertions ins(21;5. Chromothripsis has been recently reported as a mechanism drives germline CCRs in pediatric patients with congenital defects. We postulate that the unique CCRs in the phenotypically normal mother could resulted from chromosome 5p chromothripsis, that further resulted in the interstitial 5p deletions in the unaffected daughter. Further high resolution sequencing based analysis is needed to determine whether chromothripsis is also present as a germline structural variation in phenotypically normal individuals in this family.

  7. Dynamics of chromosome segregation in Escherichia coli

    DEFF Research Database (Denmark)

    Nielsen, Henrik Jørck

    2007-01-01

    Since the 1960’es the conformation and segregation of the chromosome in Escherichia coli has been a subject of interest for many scientists. However, after 40 years of research, we still know incredibly little about how the chromosome is organized inside the cell, how it manages to duplicate...... this incredibly big molecule and separate the two daughter chromosomes and how it makes sure that the daughter cells receives one copy each. The fully extended chromosome is two orders of magnitude larger than the cell in which it is contained. Hence the chromosome is heavily compacted in the cell...

  8. Implication of the apoptotic process in the modulation of chromosomal damages

    International Nuclear Information System (INIS)

    Blaise, Renaud

    2001-01-01

    In this research thesis in the field of biology, the author reports that the study of radio-induced chromosomal reorganizations during cellular proliferation revealed the occurrence of other radio-induced 'de novo' chromosomal anomalies present in the lineage of irradiated cells. Three cellular models have been studied. The obtained results show the role on a short term of the apoptosis in maintaining chromosomal damages, an inhibition of this death process along with an increase of the number of aberration in the first cellular generations following an irradiation or an extended exposure to H 2 O 2 . But the apoptotic process does not seem to influence the appearance of chromosomal damages on a long term. The author concludes that apoptosis as an early response to a stress, and chromosomal unsteadiness as a late response are not directly associated

  9. Frequencies of chromosome aberration on radiation workers

    International Nuclear Information System (INIS)

    Yanti Lusiyanti; Zubaidah Alatas

    2016-01-01

    Radiation exposure of the body can cause damage to the genetic material in cells (cytogenetic) in the form of changes in the structure or chromosomal aberrations in peripheral blood lymphocytes. Chromosomal aberrations can be unstable as dicentric and ring chromosomes, and is stable as translocation. Dicentric chromosome is the gold standard biomarker due to radiation exposure, and chromosome translocation is a biomarker for retrospective biodosimetry. The aim of this studi is to conduct examination of chromosomal aberrations in the radiation worker to determine the potential damage of cell that may arise due to occupational radiation exposure. The examination have been carried out on blood samples from 55 radiation workers in the range of 5-30 year of service. Chromosome aberration frequency measurement starts with blood sampling, culturing, harvesting, slide preparations, and lymphocyte chromosome staining with Giemsa and painting with Fluorescence In Situ Hybridization (FISH) technique. The results showed that chromosomal translocations are not found in blood samples radiation workers and dicentric chromosomes found only on 2 blood samples of radiation workers with a frequency of 0.001/cell. The frequency of chromosomal aberrations in the blood cells such workers within normal limits and this means that the workers have been implemented a radiation safety aspects very well. (author)

  10. Nondisjunction and chromosomal anomalies

    Directory of Open Access Journals (Sweden)

    Mostapha Ahmad

    2010-01-01

    Full Text Available La no segregación es el fracaso de los cromosomas homólogos en separarse correctamente durante la meiosis. Esto resulta en la producción de gametos que contienen una cantidad de cromosomas mayor o menor a la encontrada en una célula normal. Consecuentemente, el individuo puede desarrollar una trisomía o monosomía. La no disyunción puede ocurrir en meiosis I o meiosis II de la división celular, es una causa de diversas condiciones médicas anormales, incluyendo el Síndrome de Down (trisomía del cromosoma 21, Síndrome de Patau (trisomía del cromosoma 13, Síndrome de Edward (trisomía del cromosoma 18 y Síndrome de Turner (la presencia de un solo cromosoma X. A pesar de que es la causa de numerosos trastornos genéticos, aún no se conoce su etiología exacta y el proceso en el cual se lleva a cabo. La no disyunción se origina en el mayor de los casos de errores en la meiosis II materna, sin embargo, la meiosis paterna y la meiosis I materna influyen en ella. La edad materna se considera como un factor de riesgo de las trisomías, igual que la alteración de la recombinación y otros factores que pueden afectar la segregación cromosómica, tal como la genotoxicidad y translocaciones cromosómicas. Esta revisión se realizará con base en artículos publicados entre 2003 y 2009 en ISI Web, Science Direct, PUBMED, SPRINGER y SCIELO; se interpretará y analizará en ella los resultados de estos estudios que lograron demostrar conclusiones importantes y sobresaltaron factores interesantes que pueden ser el punto de partida para próximas investigaciones.

  11. Chromosomal instability induced by ionizing radiation

    International Nuclear Information System (INIS)

    Morgan, W.F.; Marder, B.A.; Day, J.P.

    1995-01-01

    There is accumulating evidence indicating genomic instability can manifest multiple generations after cellular exposure to DNA damaging agents. For instance, some cells surviving exposure to ionizing radiations show delayed reproductive cell death, delayed mutation and / or delayed chromosomal instability. Such instability, especially chromosome destabilization has been implicated in mutation, gene amplification, cellular transformation, and cell killing. To investigate chromosomal instability following DNA damage, we have used fluorescence in situ hybridization to detect chromosomal rearrangements in a human/hamster somatic hybrid cell line following exposure to ionizing radiation. Delayed chromosomal instability was detected when multiple populations of uniquely arranged metaphases were observed in clonal isolates raised from single cells. The relationship between delayed chromosomal destabilization and other endpoints of genomic instability, namely; delayed mutation and gene amplification will be discussed, as will the potential cytogenetic and molecular mechanisms contributing to delayed chromosomal instability

  12. Delayed chromosomal instability induced by DNA damage

    International Nuclear Information System (INIS)

    Morgan, W.F.; Marder, B.A.; Day, J.P.

    1994-01-01

    Cellular exposure to DNA damaging agents rapidly results in a dose dependent increase in chromosomal breakage and gross structural chromosomal rearrangements. Over recent years, evidence has been accumulating indicating genomic instability can manifest multiple generations after cellular exposure to physical and chemical DNA damaging agents. Genomic instability manifests in the progeny of surviving cells, and has been implicated in mutation, gene application, cellular transformation, and cell killing. To investigate chromosome instability following DNA damage, we have used fluorescence in situ hybridization to detect chromosomal rearrangements in a human/hamster somatic hybrid cell line following exposure to ionizing radiation. Delayed chromosomal instability was detected when multiple populations of uniquely arranged metaphases were observed in clonal isolates raised from single cells surviving X-irradiation many generations after exposure. At higher radiation doses, chromosomal instability was observed in a relatively high frequency of surviving clones and, in general, those clones showed delayed chromosome instability also showed reduced survival as measured by colony forming ability

  13. Genome Organization Drives Chromosome Fragility.

    Science.gov (United States)

    Canela, Andres; Maman, Yaakov; Jung, Seolkyoung; Wong, Nancy; Callen, Elsa; Day, Amanda; Kieffer-Kwon, Kyong-Rim; Pekowska, Aleksandra; Zhang, Hongliang; Rao, Suhas S P; Huang, Su-Chen; Mckinnon, Peter J; Aplan, Peter D; Pommier, Yves; Aiden, Erez Lieberman; Casellas, Rafael; Nussenzweig, André

    2017-07-27

    In this study, we show that evolutionarily conserved chromosome loop anchors bound by CCCTC-binding factor (CTCF) and cohesin are vulnerable to DNA double strand breaks (DSBs) mediated by topoisomerase 2B (TOP2B). Polymorphisms in the genome that redistribute CTCF/cohesin occupancy rewire DNA cleavage sites to novel loop anchors. While transcription- and replication-coupled genomic rearrangements have been well documented, we demonstrate that DSBs formed at loop anchors are largely transcription-, replication-, and cell-type-independent. DSBs are continuously formed throughout interphase, are enriched on both sides of strong topological domain borders, and frequently occur at breakpoint clusters commonly translocated in cancer. Thus, loop anchors serve as fragile sites that generate DSBs and chromosomal rearrangements. VIDEO ABSTRACT. Published by Elsevier Inc.

  14. Microdissection and chromosome painting of the alien chromosome in an addition line of wheat-Thinopyrum intermedium

    Science.gov (United States)

    The chromosome painting is an efficient tool for chromosome research. However, plant chromosome painting is relatively underdeveloped. In this study, chromosome painting was developed and used to identify alien chromosomes in TAi-27, a wheat-Thinopyrum intermedium addition line, and chromosomes of...

  15. GSK-3 inhibitors induce chromosome instability

    Directory of Open Access Journals (Sweden)

    Staples Oliver D

    2007-08-01

    Full Text Available Abstract Background Several mechanisms operate during mitosis to ensure accurate chromosome segregation. However, during tumour evolution these mechanisms go awry resulting in chromosome instability. While several lines of evidence suggest that mutations in adenomatous polyposis coli (APC may promote chromosome instability, at least in colon cancer, the underlying mechanisms remain unclear. Here, we turn our attention to GSK-3 – a protein kinase, which in concert with APC, targets β-catenin for proteolysis – and ask whether GSK-3 is required for accurate chromosome segregation. Results To probe the role of GSK-3 in mitosis, we inhibited GSK-3 kinase activity in cells using a panel of small molecule inhibitors, including SB-415286, AR-A014418, 1-Azakenpaullone and CHIR99021. Analysis of synchronised HeLa cells shows that GSK-3 inhibitors do not prevent G1/S progression or cell division. They do, however, significantly delay mitotic exit, largely because inhibitor-treated cells have difficulty aligning all their chromosomes. Although bipolar spindles form and the majority of chromosomes biorient, one or more chromosomes often remain mono-oriented near the spindle poles. Despite a prolonged mitotic delay, anaphase frequently initiates without the last chromosome aligning, resulting in chromosome non-disjunction. To rule out the possibility of "off-target" effects, we also used RNA interference to selectively repress GSK-3β. Cells deficient for GSK-3β exhibit a similar chromosome alignment defect, with chromosomes clustered near the spindle poles. GSK-3β repression also results in cells accumulating micronuclei, a hallmark of chromosome missegregation. Conclusion Thus, not only do our observations indicate a role for GSK-3 in accurate chromosome segregation, but they also raise the possibility that, if used as therapeutic agents, GSK-3 inhibitors may induce unwanted side effects by inducing chromosome instability.

  16. Chromosome aberration assays in Allium

    Energy Technology Data Exchange (ETDEWEB)

    Grant, W.F.

    1982-01-01

    The common onion (Allium cepa) is an excellent plant for the assay of chromosome aberrations after chemical treatment. Other species of Allium (A. cepa var. proliferum, A. carinatum, A. fistulosum and A. sativum) have also been used but to a much lesser extent. Protocols have been given for using root tips from either bulbs or seeds of Allium cepa to study the cytological end-points, such as chromosome breaks and exchanges, which follow the testing of chemicals in somatic cells. It is considered that both mitotic and meiotic end-points should be used to a greater extent in assaying the cytogenetic effects of a chemical. From a literature survey, 148 chemicals are tabulated that have been assayed in 164 Allium tests for their clastogenic effect. Of the 164 assays which have been carried out, 75 are reported as giving a positive reaction, 49 positive and with a dose response, 1 positive and temperature-related, 9 borderline positive, and 30 negative; 76% of the chemicals gave a definite positive response. It is proposed that the Allium test be included among those tests routinely used for assessing chromosomal damage induced by chemicals.

  17. First-trimester multimarker prediction of gestational diabetes mellitus using targeted mass spectrometry

    DEFF Research Database (Denmark)

    Ravnsborg, Tina; Andersen, Lise Lotte T; Trabjerg, Natacha D.

    2016-01-01

    –control study was performed on first-trimester serum samples from 199 GDM cases and 208 controls, each divided into an obese group (BMI ≥27 kg/m2) and a non-obese group (BMI 2). Based on their biological relevance to GDM or type 2 diabetes mellitus or on their previously reported potential as biomarkers......Aims/hypothesis: Gestational diabetes mellitus (GDM) is associated with an increased risk of pre-eclampsia, macrosomia and the future development of type 2 diabetes mellitus in both mother and child. Although an early and accurate prediction of GDM is needed to allow intervention and improve...... perinatal outcome, no single protein biomarker has yet proven useful for this purpose. In the present study, we hypothesised that multimarker panels of serum proteins can improve first-trimester prediction of GDM among obese and non-obese women compared with single markers. Methods: A nested case...

  18. Assessment of global DNA methylation in the first trimester fetal tissues exposed to maternal cigarette smoking

    DEFF Research Database (Denmark)

    Fa, Svetlana; Larsen, Trine Vilsbøll; Bilde, Katrine

    2016-01-01

    to exposures with an epigenetic impact. We have assessed the influence of maternal cigarette smoking during the first trimester for fetal global DNA methylation. METHODS AND RESULTS: We analyzed the human fetal intestines and livers as well as the placentas from the first trimester pregnancies. Global DNA......AIMS: Maternal cigarette smoking during pregnancy increases the risk of negative health consequences for the exposed child. Epigenetic mechanisms constitute a likely link between the prenatal exposure to maternal cigarette smoking and the increased risk in later life for diverse pathologies....... Maternal smoking induces gene-specific DNA methylation alterations as well as global DNA hypermethylation in the term placentas and hypomethylation in the cord blood. Early pregnancy represents a developmental time where the fetal epigenome is remodeled and accordingly can be expected to be highly prone...

  19. Selective serotonin reuptake inhibitor antidepressant use in first trimester pregnancy and risk of congenital anomalies

    DEFF Research Database (Denmark)

    Wemakor, A.; Casson, K.; Garne, E.

    2015-01-01

    Objective / Background The Selective Serotonin Reuptake Inhibitor (SSRI) antidepressants are widely prescribed in pregnancy, but there is evidence that they may cause congenital anomalies, particularly congenital heart defects (CHD). Objective: To determine the specificity of association between...... first trimester pregnancy exposure to individual SSRI and specific congenital anomalies (CAs). Methods Population-based case-malformed control study covering 3.3 million births from 12 EUROCAT registries 1995-2009. CAs included non-syndromic live births, fetal deaths and terminations of pregnancy......% confidence intervals (CI) were calculated adjusted for registry. Results SSRI use in first trimester pregnancy was associated with CHD overall (OR 1.38, 95 % CI 1.05-1.82, n=109); and with severe CHDs (OR 1.56, 95 % CI 1.03-2.38, n=29). Specific associations between SSRI and Tetralogy of Fallot (OR 3.36, 95...

  20. Characteristics of first-trimester screening of non-responders in a high-uptake population

    DEFF Research Database (Denmark)

    Wolf, Hanne Trap; Wulff, Camilla Bernt; Ekelund, Charlotte

    2016-01-01

    INTRODUCTION: Our aim was to compare demographic, social and reproductive health-related medical factors between women who did and women who did not undergo combined first-trimester screening (cFTS) and to examine their reasons for declining a screening offer, especially whether non-participation......INTRODUCTION: Our aim was to compare demographic, social and reproductive health-related medical factors between women who did and women who did not undergo combined first-trimester screening (cFTS) and to examine their reasons for declining a screening offer, especially whether non...... with the following factors: country of origin other than Denmark (p ... of a conscious choice based on ethical considerations, rather than being the result of a lack of information. However, a low response rate decreases the strength of our conclusions. FUNDING: none. TRIAL REGISTRATION: not relevant....

  1. Including ethical considerations in models for first-trimester screening for pre-eclampsia

    DEFF Research Database (Denmark)

    Jørgensen, Jennifer Maureen; Hedley, Paula L.; Gjerris, Mickey

    2014-01-01

    Recent efforts to develop reliable and efficient early pregnancy screening programmes for pre-eclampsia have focused on com-bining clinical, biochemical and biophysical markers. The same model has been used for first-trimester screening for fetal aneuploidies i.e. prenatal diagnosis (PD), which...... is routinely offered to all pregnant women in many developed countries. Some studies suggest combining PD and pre-eclampsia screening, so women can be offered testing for a number of conditions at the same clinical visit. A combination of these tests may be practical in terms of saving time and resources......; however, the combination raises ethical issues. First-trimester PD and pre-eclampsia screening entail qualitative differences which alter the requirements for disclosure, non-directedness and consent with regard to the informed consent process. This article explores the differences related to the ethical...

  2. Plasma cross-gestational sphingolipidomic analyses reveal potential first trimester biomarkers of preeclampsia.

    Directory of Open Access Journals (Sweden)

    Aneta Dobierzewska

    Full Text Available Preeclampsia (PE is a gestational disorder, manifested in the second half of pregnancy by maternal hypertension, proteinuria and generalized edema. PE is a major cause of maternal and fetal morbidity and mortality, accounting for nearly 40% of all premature births worldwide. Bioactive sphingolipids are emerging as key molecules involved in etiopathogenesis of PE, characterized by maternal angiogenic imbalance and symptoms of metabolic syndrome. The aim of this study was to compare the cross-gestational profile of circulating bioactive sphingolipids in maternal plasma from preeclamptic (PE versus normotensive control (CTL subjects with the goal of identifying sphingolipids as candidate first trimester biomarkers of PE for early prediction of the disease.A prospective cohort of patients was sampled at the first, second and third trimester of pregnancy for each patient (11-14, 22-24, and 32-36 weeks´ gestation. A retrospective stratified study design was used to quantify different classes of sphingolipids in maternal plasma. We used a reverse-phase high-performance liquid chromatography-tandem mass spectrometry (HPLC-ESI-MS/MS approach for determining different sphingolipid molecular species (sphingosine-1-phosphate (S1P, dihydro-sphingosine-1-phosphate (DH-S1P, sphingomyelins (SM and ceramides (Cer in cross-gestational samples of human plasma from PE (n = 7, 21 plasma samples across pregnancy and CTL (n = 7, 21 plasma samples across pregnancy patients.Plasma levels of angiogenic S1P did not change significantly in control and in preeclamptic patients´ group across gestation. DH-S1P was significantly decreased in second trimester plasma of PE patients in comparison to their first trimester, which could contribute to reduced endothelial barrier observed in PE. The major ceramide species (Cer 16:0 and Cer 24:0 tended to be up-regulated in plasma of control and PE subjects across gestation. The levels of a less abundant plasma ceramide species (Cer

  3. An Unusual Case of Fulminant Type 1 Diabetes during the Second Trimester of Pregnancy

    Directory of Open Access Journals (Sweden)

    Tomohiro Okuda

    2014-01-01

    Full Text Available Fulminant type 1 diabetes is a new subtype of rapid-onset type 1 diabetes, with pancreatic exocrine dysfunction, that usually develops during the third trimester of pregnancy. We describe a patient with fulminant type 1 diabetes onset during her second trimester, resulting in premature delivery. The 34-year-old woman, without any known risk factors for diabetes mellitus, experienced a sudden stillbirth at 24-weeks gestation. Her blood glucose level was 950 mg/dL and she was positive for urine ketone bodies. The condition met all the diagnostic criteria for fulminant type 1 diabetes, and was diagnosed as such. Although this disease is rare, its progression is rapid, and its clinical course is severe and occasionally leads to death; therefore, a full knowledge of the disease is important to facilitate an accurate diagnosis.

  4. A Rare Case of Second Trimester Uterine Rupture in Unscarred Uterus

    Directory of Open Access Journals (Sweden)

    Poonam Kashyap

    2017-11-01

    Full Text Available Second trimester uterine rupture is rare and presents with life threatening emergency. Few cases have been reported in literature. Most of the cases which have been reported are with the use of labor-induction agents in late termination of pregnancy. Others are involving any surgical procedures in placenta percreta or scarred uterus. The main contributory factors were scarred uterus and abnormal placentation. In this study, uterine rupture had occurred in unscarred uterus in non-laboring women in second trimester without any intervention which is very rare to found. The lack of index of high suspicion diverts attention to search for other non-gynecological causes. Our aim is to create awareness through this case study to avoid delay in diagnosis and timely management of such cases.

  5. Total and Trimester-Specific Gestational Weight Gain and Offspring Birth and Early Childhood Weight

    DEFF Research Database (Denmark)

    Scheers Andersson, Elina; Silventoinen, Karri; Tynelius, Per

    2016-01-01

    Gestational weight gain (GWG) has in numerous studies been associated with offspring birth weight (BW) and childhood weight. However, these associations might be explained by genetic confounding as offspring inherit their mother's genetic potential to gain weight. Furthermore, little is known about...... whether particular periods of pregnancy could influence offspring body weight differently. We therefore aimed to explore total and trimester-specific effects of GWG in monozygotic (MZ) twin mother-pairs on their offspring's BW, weight at 1 year and body mass index (BMI) at 5 and 10 years. MZ twin mothers...... statistically weak, suggested no associations between GWG and offspring weight or BMI during infancy or childhood. Our study suggests that total, and possibly also second and third trimester, GWG are associated with offspring BW when taking shared genetic and environmental factors within twin pairs into account...

  6. CRISPR/Cas9-induced transgene insertion and telomere-associated truncation of a single human chromosome for chromosome engineering in CHO and A9 cells.

    Science.gov (United States)

    Uno, Narumi; Hiramatsu, Kei; Uno, Katsuhiro; Komoto, Shinya; Kazuki, Yasuhiro; Oshimura, Mitsuo

    2017-10-06

    Chromosome engineering techniques including gene insertion, telomere-associated truncation and microcell-mediated chromosome transfer (MMCT) are powerful tools for generation of humanised model animal, containing megabase-sized genomic fragments. However, these techniques require two cell lines: homologous recombination (HR)-proficient DT40 cells for chromosome modification, and CHO cells for transfer to recipient cells. Here we show an improved technique using a combination of CRISPR/Cas9-induced HR in CHO and mouse A9 cells without DT40 cells following MMCT to recipient cells. Transgene insertion was performed in CHO cells with the insertion of enhanced green fluorescence protein (EGFP) using CRISPR/Cas9 and a circular targeting vector containing two 3 kb HR arms. Telomere-associated truncation was performed in CHO cells using CRISPR/Cas9 and a linearised truncation vector containing a single 7 kb HR arm at the 5' end, a 1 kb artificial telomere at the 3' end. At least 11% and 6% of the targeting efficiency were achieved for transgene insertion and telomere-associated truncation, respectively. The transgene insertion was also confirmed in A9 cells (29%). The modified chromosomes were transferrable to other cells. Thus, this CHO and A9 cell-mediated chromosome engineering using the CRISPR/Cas9 for direct transfer of the modified chromosome is a rapid technique that will facilitate chromosome manipulation.

  7. Somatic pairing, endomitosis and chromosome aberrations in snakes (Viperidae and Colubridae

    Directory of Open Access Journals (Sweden)

    Beçak Maria Luiza

    2003-01-01

    Full Text Available The positioning of macrochromosomes of Bothrops jararaca and Bothrops insularis (Viperidae was studied in undistorted radial metaphases of uncultured cells (spermatogonia and oogonia not subjected to spindle inhibitors. Colchicinized metaphases from uncultured (spleen and intestine and cultured tissues (blood were also analyzed. We report two antagonic non-random chromosome arrangements in untreated premeiotic cells: the parallel configuration with homologue chromosomes associated side by side in the metaphase plate and the antiparallel configuration having homologue chromosomes with antipolar distribution in the metaphase ring. The antiparallel aspect also appeared in colchicinized cells. The spatial chromosome arrangement in both configurations is groupal size-dependent and maintained through meiosis. We also describe, in untreated gonia cells, endomitosis followed by reductional mitosis which restores the diploid number. In B. jararaca males we observed that some gonad regions present changes in the meiotic mechanism. In this case, endoreduplicated cells segregate the diplochromosomes to opposite poles forming directly endoreduplicated second metaphases of meiosis with the suppression of first meiosis. By a successive division, these cells form nuclei with one set of chromosomes. Chromosome doubling in oogonia is known in hybrid species and in parthenogenetic salamanders and lizards. This species also presented chromosome rearrangements leading to aneuploidies in mitosis and meiosis. It is suggested that somatic pairing, endomitosis, meiotic alterations, and chromosomal aberrations can be correlated processes. Similar aspects of nuclei configurations, endomitosis and reductional mitosis were found in other Viperidae and Colubridae species.

  8. Is MSAFP still a useful test for detecting open neural tube defects and ventral wall defects in the era of first-trimester and early second-trimester fetal anatomical ultrasounds?

    Science.gov (United States)

    Roman, Ashley S; Gupta, Simi; Fox, Nathan S; Saltzman, Daniel; Klauser, Chad K; Rebarber, Andrei

    2015-01-01

    To evaluate whether maternal serum α-fetoprotein (MSAFP) improves the detection rate for open neural tube defects (ONTDs) and ventral wall defects (VWD) in patients undergoing first-trimester and early second-trimester fetal anatomical survey. A cohort of women undergoing screening between 2005 and 2012 was identified. All patients were offered an ultrasound at between 11 weeks and 13 weeks and 6 days of gestational age for nuchal translucency/fetal anatomy followed by an early second-trimester ultrasound at between 15 weeks and 17 weeks and 6 days of gestational age for fetal anatomy and MSAFP screening. All cases of ONTD and VWD were identified via query of billing and reporting software. Sensitivity and specificity for detection of ONTD/VWD were calculated, and groups were compared using the Fisher exact test, with p met the criteria for inclusion. Overall, 15 cases of ONTD and 17 cases of VWD were identified; 100% of cases were diagnosed by ultrasound prior to 18 weeks' gestation; none were diagnosed via MSAFP screening (p < 0.001). First-trimester and early second-trimester ultrasound had 100% sensitivity and 100% specificity for diagnosing ONTD/VWD. Ultrasound for fetal anatomy during the first and early second trimester detected 100% of ONTD/VWD in our population. MSAFP is not useful as a screening tool for ONTD and VWD in the setting of this ultrasound screening protocol. © 2014 S. Karger AG, Basel.

  9. First Trimester Prenatal Care Initiation Among Hispanic Women Along the U.S.-Mexico Border

    OpenAIRE

    Selchau, Katherine; Babuca, Maricela; Bower, Kara; Castro, Yara; Coakley, Eugenie; Flores, Araceli; Garcia, Jonah O.; Reyes, Maria Lourdes F.; Rojas, Yvonne; Rubin, Jason; Samuels, Deanne; Shattuck, Laura

    2017-01-01

    Background First trimester prenatal care (FTPNC) is associated with improved birth outcomes. U.S.-Mexico border Hispanic women have lower FTPNC than non-border or non-Hispanic women. This study aimed to identify (1) what demographic, knowledge and care-seeking factors influence FTPNC among Hispanic women in border counties served by five Healthy Start sites, and (2) what FTPNC barriers may be unique to this target population. Healthy Starts work to eliminate disparities in perinatal health in...

  10. Ultrasound Assessment of Umbilical Cord Morphology in the First Trimester: A Feasibility Study

    DEFF Research Database (Denmark)

    Narayan, Rajit; Saaid, Rahmah; Pedersen, Lars Henning

    2015-01-01

    Objective: The aim of this study was to determine whether morphology and measurement of the umbilical cord could be accurately assessed at the time of the 11- to 13+6-week scan. Methods: We conducted a prospective study of 100 consecutive women with singleton pregnancies at 11-13+6 weeks' gestation...... be consistently studied in the first trimester. A subjective method of evaluation of the morphology may be a more reproducible technique until measurement strategies are refined and operator experience developed....

  11. Indication of prenatal diagnosis in pregnancies complicated by undetectable second-trimester maternal serum estriol levels.

    Science.gov (United States)

    Minsart, Anne-Frédérique; Van Onderbergen, Anne; Jacques, Francotte; Kurt, Crener; Gillerot, Yves

    2008-07-01

    Undetectable maternal serum unconjugated estriol levels in the second-trimester screening test have been associated with congenital pathology and an adverse pregnancy outcome. We reviewed outcomes of pregnancies with undetectable levels of estriol (threatened fetal abortion, one case of multiple congenital anomalies and one case of isolated adrenocorticotropin hormone deficiency. There were 6 women remaining with unexplained undetectable estriol. Undetectable maternal estriol values may indicate a severe fetal pathology and should lead to further investigations.

  12. Maternal serum proteome changes between the first and third trimester of pregnancy in rural southern Nepal.

    Science.gov (United States)

    Scholl, P F; Cole, R N; Ruczinski, I; Gucek, M; Diez, R; Rennie, A; Nathasingh, C; Schulze, K; Christian, P; Yager, J D; Groopman, J D; West, K P

    2012-05-01

    Characterization of normal changes in the serum proteome during pregnancy may enhance understanding of maternal physiology and lead to the development of new gestational biomarkers. In 23 Nepalese pregnant women who delivered at term, two-dimensional difference in-gel electrophoresis (DIGE) was used to assess changes in relative protein abundance between paired serum samples collected in the first and third trimesters. One-hundred and forty-five of over 700 protein spots in DIGE gels (pI 4.2-6.8) exhibited nominally significant (p < 0.05) differences in abundance across trimesters. Additional filtering using a Bonferroni correction reduced the number of significant (p < 0.00019) spots to 61. Mass spectrometric analysis detected 38 proteins associated with gestational age, cytoskeletal remodeling, blood pressure regulation, lipid and nutrient transport, and inflammation. One new protein, pregnancy-specific β-glycoprotein 4 was detected. A follow-up isotope tagging for relative and absolute quantitation (iTRAQ) experiment of six mothers from the DIGE study revealed 111 proteins, of which 11 exhibited significant (p < 0.05) differences between trimesters. Four of these proteins: gelsolin, complement C1r subcomponent, α-1-acid glycoprotein, and α-1B-glycoprotein also changed in the DIGE analysis. Although not previously associated with normal pregnancy, gelsolin decreased in abundance by the third trimester (p < 0.01) in DIGE, iTRAQ and Western analyses. Changes in abundance of proteins in serum that are associated with syncytiotrophoblasts (gelsolin, pregnancy-specific β-1 glycoprotein 1 and β-2-glycoprotein I) probably reflect dynamics of a placental proteome shed into maternal circulation during pregnancy. Measurement of changes in the maternal serum proteome, when linked with birth outcomes, may yield biomarkers for tracking reproductive health in resource poor settings in future studies. Published by Elsevier Ltd.

  13. Sirenomelia apus after trimethoprim exposure: first-trimester ultrasound diagnosis-a case report.

    Science.gov (United States)

    Dosedla, Erik; Kalafusová, Michaela; Calda, Pavel

    2012-01-01

    We report the early prenatal ultrasound diagnosis of sirenomelia apus at 12+4 weeks in a patient with trimethoprim exposure in the vulnerable period. First-trimester scan revealed a malformed fetus with one femur, one small tibia, no feet, intraabdominal unilocular cystic structure, and two-vessel umbilical cord with allantoic cyst. Ultrasound visualization with two/three/four-dimensions was helpful in the process of parental counseling. Copyright © 2012 Wiley Periodicals, Inc.

  14. Prenatal diagnosis of sirenomelia in the first trimester: A case report

    OpenAIRE

    Ceylan, Yasin; Do?an, Yasemin; ?zkan ?zdemir, Sebiha; Y?cesoy, G?lseren

    2016-01-01

    Sirenomelia or ?mermaid syndrome? is a rare congenital syndrome characterized by the anomalous development of the caudal region of the body. We present a case of sirenomelia diagnosed in the first trimester using two-dimensional and three-dimensional ultrasonographic examination. A nulliparous woman aged thirty years was referred to our perinatology unit for evaluation because of oligohydramnios at 12 weeks of gestation. Her medical history was unremarkable. There was no family history of gen...

  15. Haemorheological profiles in different trimesters among pregnant women in South West Nigeria

    International Nuclear Information System (INIS)

    Oke, O.T.; Oyedeji, S.O.; Awofadeju, S.O.

    2011-01-01

    Normal pregnancy is characterised by a reduction in peripheral resistance in order to increase blood flow and facilitate the supply of oxygen and nutrients to the peripheral tissues. The aim of this study was to see the effect of pregnancy on haemorheological profiles based on trimesters. Methods: This study was carried out at Haematology Department of Obafemi Awolowo University Teaching Hospital Complex, Ile-Ife, Nigeria. Sixty pregnant and twenty non-pregnant women were included. Estimation of packed cell volume, erythrocyte sedimentation rate, relative plasma viscosity, relative whole blood viscosity, and fibrinogen concentration were carried out based on trimesters using standard approved methods. Results: The mean of packed cell volume (PCV), erythrocyte sedimentation rate (ESR), and relative plasma viscosity (RPV) were 0.33L/L, 26.10 mm/1 Hr, and 1.70 mPa.s, while that of relative whole blood viscosity (RWBV) and fibrinogen concentration (FIBC) were 3.88 mPa.s and 4.38g/L. In the second trimester, the mean PCV was 0.32L/L, mean ESR was 43.20 mm/1 Hr, RPV was 1.72 mPa.s, WBV 3.50 mPa.s and FIBC 4.86 g/L. For the third trimester, the means were: PCV 0.29 L/L, ESR 86.65 mm/1 Hr, RPV 1.77 mPa.s, and RWB 3.88 mPa.s while FIBC was 5.04 g. Conclusion: Normal pregnancy exerts positive influence on haemorheological profiles and this could explain the reduced risk of cardiovascular disease in pregnancy. Haemorheological profiles can be used to monitor the development of cardiovascular disease during pregnancy. (author)

  16. Critical congenital heart defects and abnormal levels of routinely collected first- and second-trimester biomarkers.

    Science.gov (United States)

    Borelli, Melissa; Baer, Rebecca J; Chambers, Christina D; Smith, Tyler C; Jelliffe-Pawlowski, Laura L

    2017-02-01

    We examined the association between maternal characteristics, routinely collected first- and second-trimester biomarkers and the risk of having an infant with a critical congenital heart defect (CCHD). Included were women who participated in the California Prenatal Screening Program who had nuchal translucency (NT) measurement and first- and second-trimester serum screening. All pregnancies ended in a live birth of an infant without aneuploidy or a neural tube defect. Poisson regression analyses were used to estimate the relative risk and 95% confidence interval of a CCHD by maternal characteristics, first- and second-trimester serum biomarkers or NT measurements. The sample included 118,194 mother-infant pairs; 284 infants had a CCHD. Women with preexisting diabetes were three-times as likely to have an infant with a CCHD. After adjusting for preexisting diabetes, women with first-trimester human chorionic gonatotropin (hCG) measurement <10th centile were 1.6-times as likely to have an infant with a CCHD (P = 0.011). Women with a NT measurement ≥95th centile were at two- to threefold higher risk of having an infant with a CCHD (P's = 0.004-0.007). Pregnancies with two risk factors for an infant with a CCHD were 5.6-times more likely to have an infant with a CCHD than women with no identified risk factors (P < 0.001). Despite the increased risk, performance testing demonstrated low sensitivity and specificity for screening use of these risk factors. Of the women with an infant with a CCHD, only 21.8% had an identified risk factor. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  17. Comparison of gemeprost and vaginal misoprostol in first trimester mifepristone-induced abortion

    DEFF Research Database (Denmark)

    Svendsen, Pernille Fog; Rørbye, Christina; Vejborg, Thomas

    2005-01-01

    Abstract Background The aim of this study was to compare efficacy and side effects of gemeprost and vaginal misoprostol in mifepristone-induced abortions in women up to 63 days of gestation. Methods A retrospective study of 833 consecutive patients admitted for medical termination of first......, gemeprost and vaginal misoprostol are equally effective for termination of first trimester abortion, but may be associated with varying intensity of side effects....

  18. Maternal first-trimester diet and childhood bone mass: the Generation R Study.

    Science.gov (United States)

    Heppe, Denise H M; Medina-Gomez, Carolina; Hofman, Albert; Franco, Oscar H; Rivadeneira, Fernando; Jaddoe, Vincent W V

    2013-07-01

    Maternal diet during pregnancy has been suggested to influence bone health in later life. We assessed the association of maternal first-trimester dietary intake during pregnancy with childhood bone mass. In a prospective cohort study in 2819 mothers and their children, we measured first-trimester daily energy, protein, fat, carbohydrate, calcium, phosphorus, and magnesium intakes by using a food-frequency questionnaire and homocysteine, folate, and vitamin B-12 concentrations in venous blood. We measured childhood total body bone mass by using dual-energy X-ray absorptiometry at the median age of 6.0 y. Higher first-trimester maternal protein, calcium, and phosphorus intakes and vitamin B-12 concentrations were associated with higher childhood bone mass, whereas carbohydrate intake and homocysteine concentrations were associated with lower childhood bone mass (all P-trend childhood bone mass. In the fully adjusted regression model that included all dietary factors significantly associated with childhood bone mass, maternal phosphorus intake and homocysteine concentrations most-strongly predicted childhood bone mineral content (BMC) [β = 2.8 (95% CI: 1.1, 4.5) and β = -1.8 (95% CI: -3.6, 0.1) g per SD increase, respectively], whereas maternal protein intake and vitamin B-12 concentrations most strongly predicted BMC adjusted for bone area [β = 2.1 (95% CI: 0.7, 3.5) and β = 1.8 (95% CI: 0.4, 3.2) g per SD increase, respectively]. Maternal first-trimester dietary factors are associated with childhood bone mass, suggesting that fetal nutritional exposures may permanently influence bone development.

  19. Frequency Of Illicit Drug Consumption In The First Trimester Of Pregnancy (Tehran - 2001

    Directory of Open Access Journals (Sweden)

    Ramezanzadeh f

    2003-11-01

    Full Text Available Illicit drug abuse is a major area of interest for clinicians, as well as for public health and social authorities, but one of the major concerns is the illicit drug abuse during the periconceptional period and throughout pregnancy, because of its potential effects on the embryo and fetus. In this study we investigated the prevalence of illicit drug abuse in the first trimester of pregnancy in women who referred to Iran, Tehran and Shahid Beheshti universities of medical sciences, for prenatal care."nMaterials and Methods: In this descriptive cross sectional study, a non-randomized sample of 2000 pregnant women that were in their second and third trimester of their pregnancy, were interviewed about drug abuse in their first trimester. Collected data were analyzed by SPSS software."nResults: The prevalence of illicit drug abuse in the first trimester was 2.5% which the majority of these drugs were in group B. The prevalence of drug abuse was 0.9% and alcohol usage and alcohol abuse was 0.2%, cigarette smoking was the most common drug abusing phenomena. Variables such as husband education, infertility and satisfaction with pregnancy have significant relation with drug abuse."nConclusion: The results of this study support the need for continued education and this education must end in by itself to make dramatic changes in behavior. So results of this study showed that, improving education and knowledge of mothers and consultation with them in regard to risks and complications of drug abuse during pregnancy, would make dramatic changes in their behavior."n"n"n"n"n"n"n"n 

  20. Fetal gender determination through Y-STR analysis of maternal plasma during the third trimester of pregnancy

    Directory of Open Access Journals (Sweden)

    Hanaa M.H. Aal-Hamdan

    2015-01-01

    Conclusion: It is recommended to use Y-STR profiling as an alternative technique for fetal gender determination during the third trimester of pregnancy, in addition to its significance in forensic casework.

  1. First trimester serum levels of the soluble transcobalamin receptor, holo-transcobalamin, and total transcobalamin in relation to preeclampsia risk

    DEFF Research Database (Denmark)

    Abuyaman, Omar; Torring, Niels; Obeid, Rima

    2016-01-01

    transcobalamin (TC) with the risk of subsequent preeclampsia using serum samples from asymptomatic first trimester pregnant women. Moreover, we aimed to establish reference intervals of the aforementioned biomarkers for first trimester pregnant women who remained healthy throughout pregnancy. STUDY DESIGN...... preeclampsia while the controls remained normotensive throughout pregnancy. We measured the serum concentration of sCD320, holoTC, and total TC by using in-house ELISA methods. RESULTS: First trimester median concentrations of sCD320, holoTC and total TC were not significantly different between cases...... and controls. The odd ratio for developing preeclampsia based on exposure to low or high levels of sCD320, holoTC or total TC at first trimester was not significant. The reference intervals (2.5-97.5% percentiles (median)) derived from the controls were 50-170 (90) pmol\\L for sCD320, 20-140 (70) pmol...

  2. Inter-chromosomal heterogeneity in the formation of radiation induced chromosomal aberrations

    International Nuclear Information System (INIS)

    Natarajan, A.T.; Vermeulen, S.; Boei, J.J.W.A.

    1997-01-01

    It is generally assumed that radiation induced chromosomal lesions are distributed randomly and repaired randomly among the genome. Recent studies using fluorescent in situ hybridization (FISH) and chromosome specific DNA libraries indicate that some chromosomes are more sensitive for radiation induced aberration formation than others. Chromosome No. 4 in human and chromosome No. 8 in Chinese hamster have been found to involve more in exchange aberrations than others, when calculated on the basis of their DNA content. Painting with arm specific chromosome libraries indicate that the frequencies of radiation induced intra-chromosome exchanges (i.e., between the arms of a chromosome, such as centric rings and inversions) are far in excess than one would expect on the basis of the frequencies of observed inter-chromosomal exchanges. The possible factors leading to the observed heterogeneity will be discussed

  3. Chromosomal divergence and evolutionary inferences in Rhodniini based on the chromosomal location of ribosomal genes

    Directory of Open Access Journals (Sweden)

    Sebastian Pita

    2013-05-01

    Full Text Available In this study, we used fluorescence in situ hybridisation to determine the chromosomal location of 45S rDNA clusters in 10 species of the tribe Rhodniini (Hemiptera: Reduviidae: Triatominae. The results showed striking inter and intraspecific variability, with the location of the rDNA clusters restricted to sex chromosomes with two patterns: either on one (X chromosome or both sex chromosomes (X and Y chromosomes. This variation occurs within a genus that has an unchanging diploid chromosome number (2n = 22, including 20 autosomes and 2 sex chromosomes and a similar chromosome size and genomic DNA content, reflecting a genome dynamic not revealed by these chromosome traits. The rDNA variation in closely related species and the intraspecific polymorphism in Rhodnius ecuadoriensis suggested that the chromosomal position of rDNA clusters might be a useful marker to identify recently diverged species or populations. We discuss the ancestral position of ribosomal genes in the tribe Rhodniini and the possible mechanisms involved in the variation of the rDNA clusters, including the loss of rDNA loci on the Y chromosome, transposition and ectopic pairing. The last two processes involve chromosomal exchanges between both sex chromosomes, in contrast to the widely accepted idea that the achiasmatic sex chromosomes of Heteroptera do not interchange sequences.

  4. Chromosome studies on Brazilian cerrado plants

    Directory of Open Access Journals (Sweden)

    Eliana Regina Forni-Martins

    2000-12-01

    Full Text Available Cerrado is the Brazilian name for the neotropical savanna, which occurs mainly in Brazilian Central Plateau, composed of herbaceous-subshrubby and shrubby-arboreal floras, both of which are heliophilous, highly diverse and regionally differentiated. Considering species distribution and chromosome numbers, some authors have proposed that the herbaceous-subshrubby flora of the neotropical savanna is quite old, while the shrubby-arboreal flora is derived from forests, a hypothesis that implies higher chromosome numbers in the savanna than in the forest. If, however, chromosome numbers are similar in the cerrado and in forests, both could be similarly old, indicating that bi-directional flow of flora occurred in the past. This paper presents data on chromosome numbers and microsporogenesis for 20 species in 13 families collected in the States of São Paulo, Goiás and Minas Gerais, providing previously unpublished data for Myrcia (Myrtaceae, Luxemburgia (Ochnaceae and Hortia (Rutaceae. Meiosis proved to be normal, indicating regularity in the sexual reproductive process. Chromosome numbers varied from 2n = 18 (Allamanda angustifolia: Apocynaceae to 2n = ca. 104 (Ouratea spectabilis: Ochnaceae, being low (20 Cerrado é a palavra que, no Brasil, designa a savana neotropical, com área nuclear no Planalto Central, constituída de uma flora herbáceo-subarbustiva e outra arbustivo-arbórea, ambas heliófilas, altamente diversificadas e regionalmente diferenciadas. Considerando a distribuição de espécies e de números cromossômicos, alguns autores propuseram que a flora herbáceo-subarbustiva da savanna neotropical seria bastante antiga, enquanto a flora arbustivo-arbórea seria derivada das florestas Atlântica e Amazônica, uma hipótese que implica na ocorrência de números cromossômicos mais altos no cerrado que nas florestas. Porém, se os números cromossômicos forem similares no cerrado e nas florestas, ambos os tipos de formação poderiam

  5. [Group counselling for the second trimester ultrasound: can group counselling be an alternative for individual counselling?].

    Science.gov (United States)

    de Lau, Hinke; Depmann, Martine; Laeven, Yvo J M; Stoutenbeek, Philip H; Pistorius, Lou R; van Beek, Erik; Schuitemaker, Nico W E

    2013-01-01

    To compare group counselling to individual counselling with respect to the second trimester ultrasound. A prospective cohort study at two hospitals. At one hospital, 100 pregnant women were counselled on the risks and benefits of the second trimester ultrasound in groups of up to 15 patients. Shortly before the ultrasound they were asked to fill out a questionnaire. Results were compared to 100 women who were counselled individually at another hospital. The primary outcome was the level of informed choice whether or not to undergo the ultrasound, defined as sufficient knowledge and a value-consistent decision. The secondary outcome measures were level of understanding of the second trimester ultrasound and the degree of satisfaction with the counselling. The resulting level of informed choice was 87.0% after group counselling compared to 79.4% after individual counselling (p = 0.47). The mean knowledge score was 8.8 for the women who attended group counselling; women who were individually counselled had a mean score of 7.4 (p counselling was 7.0 for group counselling and 6.2 for individual counselling (p group counselling was associated with higher post-counselling knowledge and satisfaction scores. Group counselling should therefore be considered as an alternative counselling method.

  6. The reverse boomerang sign: a marker for first-trimester transposition of great arteries.

    Science.gov (United States)

    Bravo-Valenzuela, Nathalie Jeanne; Peixoto, Alberto Borges; Araujo Júnior, Edward; Da Silva Costa, Fabricio; Meagher, Simon

    2017-10-12

    To describe a new sonographic marker of transposition of great arteries (TGA) during the first-trimester screening. We reviewed six cases of TGA from 2013 to 2016 in which an antenatal diagnosis of TGA at first-trimester screening (11-13 + 6 weeks of gestation) was confirmed postnatally. We specifically assessed images obtained by scanning the fetal heart in three vessels (3V) and three-vessel with trachea (3VT) views using color Doppler. The "reverse boomerang" sign was defined as a reverse curvature of right ventricle outflow tract (RVOT) at level of the 3VT view. We described six cases of confirmed TGA, five singletons and one twin pregnancy, among which only two vessels and the reverse curvature of RVOT (reverse boomerang sign) was demonstrated in the first-trimester screening at level of 3VT view. Ventricular septal defects were observed in three cases, and double outlet right ventricle in one case. No other cardiac or extracardiac anomalies were identified. Termination of pregnancy was not performed in any case. Our series case suggests that the reverse boomerang sign may improve the early prenatal screening for TGA.

  7. The use of misoprostol in termination of second-trimester pregnancy

    Directory of Open Access Journals (Sweden)

    Chen-Ju Lin

    2011-09-01

    Full Text Available Misoprostol, a synthetic prostaglandin E1 analog, is initially used to prevent peptic ulcer. The initial US Food and Drug Administration-approved indication in the product labeling is the treatment and prevention of intestinal ulcer disease resulting from nonsteroidal anti-inflammatory drugs use. In recent two decades, misoprostol has approved to be an effective agent for termination of pregnancy in various gestation, cervical ripening, labor induction in term pregnancy, and possible management of postpartum hemorrhage. For the termination of second-trimester pregnancy using the combination of mifepristone and misoprostol seems to have the highest efficacy and the shortest time interval of abortion. When mifepristone is not available, misoprostol alone is a good alternative. Misoprostol, 400 μg given vaginally every 3–6 hours, is probably the optimal regimen for second-trimester abortion. More than 800 μg of misoprostol is likely to have more side effects, especially diarrhea. Although misoprostol can be used in women with scarred uterus for termination of second-trimester pregnancy, it is recommended that women with a scarred uterus should receive lower doses and do not double the dose if there is no initial response. It is also important for us to recognize the associated teratogenic effects of misoprostol and thorough consultation before prescribing this medication to patients regarding these risks, especially when failure of abortion occurs, is needed.

  8. Peripheral blood cell microRNA quantification during the first trimester predicts preeclampsia: Proof of concept.

    Directory of Open Access Journals (Sweden)

    Edward E Winger

    Full Text Available We investigated the capacity of microRNAs isolated from peripheral blood buffy coat collected late during the first trimester to predict preeclampsia.The cohort study comprised 48 pregnant women with the following pregnancy outcomes: 8 preeclampsia and 40 with normal delivery outcomes. Quantitative rtPCR was performed on a panel of 30 microRNAs from buffy coat samples drawn at a mean of 12.7±0.5 weeks gestation. MicroRNA Risk Scores were calculated and AUC-ROC calculations derived.The AUC-ROC for preeclampsia risk was 0.91 (p<0.0001. When women with normal delivery and high-risk background (those with SLE/APS, chronic hypertension and/or Type 2 Diabetes were compared to women who developed preeclampsia but with a normal risk background (without these mentioned risk factors, preeclampsia was still predicted with an AUC-ROC of 0.92 (p<0.0001.MicroRNA quantification of peripheral immune cell microRNA provides sensitive and specific prediction of preeclampsia in the first trimester of pregnant women. With this study, we extend the range during which disorders of the placental bed may be predicted from early to the end of the first trimester. This study confirms that buffy coat may be used as a sample preparation.

  9. Assessment of iodine nutrition in pregnant north Indian subjects in three trimesters

    Directory of Open Access Journals (Sweden)

    Emmy Grewal

    2013-01-01

    Full Text Available Objective: The cross-sectional study was carried out to assess the iodine status of pregnant women, using median urinary iodine concentration (MUI as the measure of outcome, to document the impact of advancing gestation on the MUI in normal pregnancy. Materials and Methods: The present study assessed the MUI in casual urine samples from 50 pregnant subjects of each trimester and 50 age-matched non-pregnant controls. Results: The median (range of urinary iodine concentration (UIC in pregnant women was 304 (102-859 μg/L and only 2% of the subjects had prevalence of values under 150 μg/L (iodine insufficiency. With regard to the study cohort, median (range UIC in the first, second, and third trimesters was 285 (102-457, 318 (102-805, and 304 (172-859 μg/L, respectively. Differences between the first, second, and third trimesters were not statistically significant. The MUI in the controls (305 μg/L was not statistically different from the study cohort. Conclusion: The pregnant women had no iodine deficiency, rather had high median urinary iodine concentrations indicating more than adequate iodine intake. Larger community-based studies are required in iodine-sufficient populations, to establish gestation-appropriate reference ranges for UIC in pregnancy.

  10. [First trimester screening for Down syndrome at Prima facie. A 6-year survey].

    Science.gov (United States)

    Roth, P; Bernard, J-P; Meyer, V; Beaujard, M-P; Salomon, L-J; Ville, Y

    2016-02-01

    To evaluate the results of screening for trisomy 21 by the combined risk of first trimester (as defined by the decree of June 23, 2009) in the Prima facie structure. Single center study involving all patients that were seen for first trimester screening at Prima facie with singleton living pregnancy, not obtained by embryo donation, between 1 January 2009 and 31 December 2014. Eighteen thousand two hundred and fifty-one patients were included, of which underwent screening for trisomy 21 by the combined risk. One thousand and forty-six (6.1%) had a calculated risk higher than 1/250. Seventy-five were affected by trisomy 21, of whom 65 in the high risk group. The sensitivity and specificity of screening are 86.7% and 94.4%. The median nuchal translucency was 0.98 MoM. Screening for trisomy 21 by calculating the combined risk of first trimester enabled to detect 86.7% of trisomy 21 with a false positive rate of 5.6%. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  11. Nursing care for patients with placenta previa undergoing interventional therapy in the second trimester of pregnancy

    International Nuclear Information System (INIS)

    Pan Suzhao; Lu Aijin; Wang Xuezhen

    2009-01-01

    Objective: To discuss the nursing care for patients with placenta previa,who receive uterine arterial catheterization and embolization in the second trimester of pregnancy. Methods: By using superselective catheterization with Seldinger technique, bilateral uterine artery angiography and embolization were performed in 16 patients with placenta previa in the second trimester of pregnancy. Two to four hours after the procedure, rivanol intra-amniotic injection was employed to induce the abortion. Close perioperative observation and careful nursing were carried out. Results: The fetus with its subsidiary tissue was delivered in a mean time of 4.5 hours after the operation in 15 cases. No postpartum hemorrhage occurred. Induced abortion failed in one case with 26 weeks pregnancy because of a scar uterus and cervical dystocia. Hysterotomy was performed 6 days later, blood loss during the operation was about 100 ml. No nursing care related complications occurred in all 16 patients. Conclusion: Uterine arterial embolization is very helpful in making the induced abortion for the treatment of bleeding placenta previa in the second trimester of pregnancy. Strengthening of perioperative care can improve successful rate of interventional therapy and prevent the occurrence of complication. (authors)

  12. Construction of modern Australian first trimester ultrasound dating and growth charts

    International Nuclear Information System (INIS)

    McLennan, A. C.; Schluter, P. J.; and the University of Queensland, Brisbane, Queensland Australia

    2008-01-01

    Full text: Accurate pregnancy dating is vital to obstetric management. However, first trimester fetal charts commonly used in Australia rely on data reported more than three decades ago. This study reports first trimester dating and growth charts for crown-rump length between 5 and 14 weeks of gestation and biparietal diameter between 9 and 14 weeks of gestation on an Australia population using modern real-time ultrasound equipment. All consenting eligible women attending a large Sydney clinic for first trimester ultrasound between March 2005 and December 2006 were recruited. Measurements were carried out to Australasian Society for Ultrasound in Medicine standard protocols. Statistical analyses were undertaken using polynomial regression models and thorough diagnostic checks made. Overall 396 eligible women consented to the study, with 268 between 9 and 14 weeks of gestation. The average participant age was 34 years (range 22-45 years), 371 and all yielded valid biometry measurements. Equations, means and 90% reference intervals for crown-rump length measurements and biparietal diameter measurements were derived using polynomial regression models. Thorough residual and diagnostic checks were made. Once validated by others, we believe they will warrant consideration for use by Australasian Society for Ultrasound in Medicine.

  13. Potential Value of Coagulation Parameters for Suggesting Preeclampsia During the Third Trimester of Pregnancy.

    Science.gov (United States)

    Chen, Ying; Lin, Li

    2017-07-01

    Preeclampsia is a relatively common complication of pregnancy and considered to be associated with different degrees of coagulation dysfunction. This study was developed to evaluate the potential value of coagulation parameters for suggesting preeclampsia during the third trimester of pregnancy. Data from 188 healthy pregnant women, 125 patients with preeclampsia in the third trimester and 120 age-matched nonpregnant women were analyzed. Prothrombin time, prothrombin activity, activated partial thromboplastin time, fibrinogen (Fg), antithrombin, platelet count, mean platelet volume, platelet distribution width and plateletcrit were tested. All parameters, excluding prothrombin time, platelet distribution width and plateletcrit, differed significantly between healthy pregnant women and those with preeclampsia. Platelet count, antithrombin and Fg were significantly lower and mean platelet volume and prothrombin activity were significantly higher in patients with preeclampsia (P preeclampsia was 0.872 for Fg with an optimal cutoff value of ≤2.87g/L (sensitivity = 0.68 and specificity = 0.98). For severe preeclampsia, the area under the curve for Fg reached up to 0.922 with the same optimal cutoff value (sensitivity = 0.84, specificity = 0.98, positive predictive value = 0.96 and negative predictive value = 0.93). Fg is a biomarker suggestive of preeclampsia in the third trimester of pregnancy, and our data provide a potential cutoff value of Fg ≤ 2.87g/L for screening preeclampsia, especially severe preeclampsia. Copyright © 2017 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.

  14. [Behaviour and attitudes towards the sexuality of the pregnant woman during the last trimester. Phenomenological study].

    Science.gov (United States)

    Panea Pizarro, Isabel; Domínguez Martin, Ana Teresa; Barragán Prieto, Vanessa; Martos Sánchez, Almudena; López Espuela, Fidel

    2018-04-13

    To explore the life experiences on sexual relationships in the third trimester of pregnancy in primiparous women. Phenomenological qualitative study, SITE: Cáceres (Extremadura). Primiparous women in the third trimester of their pregnancy. We use theoretical sampling, was conducted on pregnant primiparous. The study included 15 participants. The data was collected using in-depth interviews, that were voiced recorded and later transcribed. The analysis was made using Giorgi's proposal. The results show three main points. Fear of doing damage, mediated by the obstetric history and the desire to have the long-awaited child. Exploring new routes: forms of sexual expression are modified by the physical changes, the fears, and the mobility. Highlighting the importance of other displays of affection and love (kisses and caresses). The Sex Taboo: lack of information against sexuality during pregnancy is still common. Women in the third trimester of their pregnancy put aside their sexual appetite and that of their partners, and concentrate in the wellbeing of their new born baby. It highlights the role of the mother before the couple. The more desired and difficult the pregnancy has been, the more the sexual life is reduced. The Health Professionals must advise and inform the couples with an open-minded attitude. Copyright © 2018 The Authors. Publicado por Elsevier España, S.L.U. All rights reserved.

  15. Relationship between first trimester aneuploidy screening test serum analytes and placenta accreta.

    Science.gov (United States)

    Büke, Barış; Akkaya, Hatice; Demir, Sibel; Sağol, Sermet; Şimşek, Deniz; Başol, Güneş; Barutçuoğlu, Burcu

    2018-01-01

    The aim of this study is to determine whether there is a relationship between first trimester serum pregnancy-associated plasma protein A (PAPP-A) and free beta human chorionic gonadotropin (fβhCG) MoM values and placenta accreta in women who had placenta previa. A total of 88 patients with placenta previa who had first trimester aneuploidy screening test results were enrolled in the study. Nineteen of these patients were also diagnosed with placenta accreta. As probable markers of excessive placental invasion, serum PAPP-A and fβhCG MoM values were compared in two groups with and without placenta accreta. Patients with placenta accreta had higher statistically significant serum PAPP-A (1.20 versus 0.865, respectively, p = 0.045) and fβhCG MoM (1.42 versus 0.93, respectively, p = 0.042) values than patients without accreta. Higher first trimester serum PAPP-A and fβhCG MoM values seem to be associated with placenta accreta in women with placenta previa. Further studies are needed to use these promising additional tools for early detection of placenta accreta.

  16. Regionally-specified second trimester fetal neural stem cells reveals differential neurogenic programming.

    Directory of Open Access Journals (Sweden)

    Yiping Fan

    Full Text Available Neural stem/progenitor cells (NSC have the potential for treatment of a wide range of neurological diseases such as Parkinson Disease and multiple sclerosis. Currently, NSC have been isolated only from hippocampus and subventricular zone (SVZ of the adult brain. It is not known whether NSC can be found in all parts of the developing mid-trimester central nervous system (CNS when the brain undergoes massive transformation and growth. Multipotent NSC from the mid-trimester cerebra, thalamus, SVZ, hippocampus, thalamus, cerebellum, brain stem and spinal cord can be derived and propagated as clonal neurospheres with increasing frequencies with increasing gestations. These NSC can undergo multi-lineage differentiation both in vitro and in vivo, and engraft in a developmental murine model. Regionally-derived NSC are phenotypically distinct, with hippocampal NSC having a significantly higher neurogenic potential (53.6% over other sources (range of 0%-27.5%, p<0.004. Whole genome expression analysis showed differential gene expression between these regionally-derived NSC, which involved the Notch, epidermal growth factor as well as interleukin pathways. We have shown the presence of phenotypically-distinct regionally-derived NSC from the mid-trimester CNS, which may reflect the ontological differences occurring within the CNS. Aside from informing on the role of such cells during fetal growth, they may be useful for different cellular therapy applications.

  17. Ionizing radiation and frequency of chromosomal aberrations in exposed personnel

    International Nuclear Information System (INIS)

    Spasojevic-Tisma, Vera; Pavlovic, Snezana

    2008-01-01

    in protective garments. The greatest radiation risk was found with the workers employed at the technetium radioisotope production. The production workers also had the longest accumulated work exposure with 2 years minimum, average above 10 years of laboratory work. It can thus be concluded that there is a direct relationship between the chromosomal aberrations found and the time of exposure to ionizing radiation sources. The probability of aberration occurrence is greater, but the frequency is not in a linear relationship with the accumulated work exposure time. The aberrations found indicate a necessity of medical surveillance of the personnel working in the ionizing radiation zone with the same dynamics. The results were statistically processed using the Student t-test (Statistica 5 software, StatSoft, Inc.) and the X-square test. (author)

  18. The role of histopathological examination of the products of conception following first-trimester miscarriage in Erbil Maternity Hospital

    OpenAIRE

    Payman Anwar Rashid

    2017-01-01

    Background and objective: Miscarriage represents a common problem that occurs in the first trimester of pregnancy. There is no general agreement on the value of submitting tissues from uterine evacuation in cases of miscarriage for histopathological examination. This study aimed to evaluate the role of histopathological examination in cases of first-trimester miscarriage. Methods: This is a descriptive study was carried out over a period of 14 months, from January 2015 to March 2016, at E...

  19. Chromosome aberration studies and microdosimetry with radiations of varying quality

    International Nuclear Information System (INIS)

    Grillmaier, R.E.; Bihy, L.; Menzel, H.G.; Schuhmacher, H.

    1978-01-01

    To investigate the biological effectivity of complex irradiation fields encountered in radiation protection and high LET radiation therapy and to find meaningful specification of radiation quality closely related to the biological effectivity, correlated chromosome aberration studies and microdosimetric investigations have been carried out using cyclotron produced collimated fast neutrons. Human lymphocytes have been irradiated at different dose levels in the direct beam and in different positions in the penumbra and the rates of acentric fragments and dicentrics have been determined. In identical positions microdosimetric measurements have been performed. The dose relationship of aberration rates after irradiation in the direct beam, the aberration rates observed in the penumbra and the microdosimetric quantities ysub(D), ysub(F) and y* are presented and their relations are discussed. Furthermore the dose relationship of chromosome aberrations induced by 60 Co-γ-rays has been investigated and used to establish the RBE dose relationship of cyclotron neutrons

  20. Chromosome analysis of arsenic affected cattle

    Directory of Open Access Journals (Sweden)

    S. Shekhar

    2014-10-01

    Full Text Available Aim: The aim was to study the chromosome analysis of arsenic affected cattle. Materials and Methods: 27 female cattle (21 arsenic affected and 6 normal were selected for cytogenetical study. The blood samples were collected, incubated, and cultured using appropriate media and specific methods. The samples were analyzed for chromosome number and morphology, relative length of the chromosome, arm ratio, and centromere index of X chromosome and chromosomal abnormalities in arsenic affected cattle to that of normal ones. Results: The diploid number of metaphase chromosomes in arsenic affected cattle as well as in normal cattle were all 2n=60, 58 being autosomes and 2 being sex chromosomes. From the centromeric position, karyotyping studies revealed that all the 29 pair of autosomes was found to be acrocentric or telocentric, and the sex chromosomes (XX were submetacentric in both normal and arsenic affected cattle. The relative length of all the autosome pairs and sex chrosomosome pair was found to be higher in normal than that of arsenic affected cattle. The mean arm ratio of X-chromosome was higher in normal than that of arsenic affected cattle, but it is reverse in case of centromere index value of X-chromosome. There was no significant difference of arm ratio and centromere index of X-chromosomes between arsenic affected and normal cattle. No chromosomal abnormalities were found in arsenic affected cattle. Conclusion: The chromosome analysis of arsenic affected cattle in West Bengal reported for the first time in this present study which may serve as a guideline for future studies in other species. These reference values will also help in comparison of cytological studies of arsenic affected cattle to that of various toxicants.

  1. Aneuploidy in immortalized human mesenchymal stem cells with non-random loss of chromosome 13 in culture.

    Science.gov (United States)

    Takeuchi, Masao; Takeuchi, Kikuko; Ozawa, Yutaka; Kohara, Akihiro; Mizusawa, Hiroshi

    2009-01-01

    Aneuploidy (an abnormal number of chromosomes) is commonly observed in most human cancer cells, highlighting the need to examine chromosomal instability in tumorigenesis. Previously, the immortalized human mesenchymal stem cell line UE6E7T-3 was shown to undergo a preferential loss of one copy of chromosome 13 after prolonged culture. Here, the loss of chromosome 13 was found to be caused by chromosome missegregation during mitosis, which involved unequal segregation, exclusion of the misaligned chromosome 13 on the metaphase plate, and trapping of chromosome 13 in the midbody region, as observed by fluorescence in situ hybridization. Near-diploid aneuploidy, not tetraploidy, was the direct result. The loss of chromosome 13 was non-random, and was detected by analysis of microsatellites and single nucleotide polymorphism-based loss of heterozygosity (LOH). Of the five microsatellite loci on chromosome 13, four loci showed microsatellite instability at an early stage in culture, and LOH was apparent at a late stage in culture. These results suggest that the microsatellite mutations cause changes in centromere integrity provoking loss of this chromosome in the UE6E7T-3 cell line. Thus, these results support the use of this cell line as a useful model for understanding the mechanism of aneuploid formation in cell cultures.

  2. Chromosome damage in Chinese hamster cells produced by 125I-UdR at the site of its incorporation

    International Nuclear Information System (INIS)

    Hughes, W.L.; Weinblatt, A.C.; Prensky, W.

    1978-01-01

    Metaphase chromosomal aberrations were produced by 125 I-labeled iododeoxyuridine ( 125 I-UdR) incorporated into Chinese hamster Don cells at the end of the S-period of the cell cycle. Chromosome damage and the number of autoradiographic silver grains were recorded for whole cells, for chromosome pairs 4 and 5 and for the X and the Y chromosomes. The X and the Y chromosomes, which label late in S, were at least twice as heavily labeled as chromosome pairs 4 and 5 - two readily recognizable autosomes of similar size. The incidence of chromosome damage was at least six times that which would have been expected from equivalent doses of X-rays and the incidence of damage was directly related to the number of silver grains over each chromosome. It is estimated that it takes four to ten disintegrations to produce a visible chromosome aberration. The finding that chromosome damage is localized at the site of the 125 I decay is most readily explained by the high flux of low energy Auger electrons occurring at the site of the decay of the incorporated 125 I atom. (Auth.)

  3. The Human Proteome Organization Chromosome 6 Consortium: integrating chromosome-centric and biology/disease driven strategies.

    Science.gov (United States)

    Borchers, C H; Kast, J; Foster, L J; Siu, K W M; Overall, C M; Binkowski, T A; Hildebrand, W H; Scherer, A; Mansoor, M; Keown, P A

    2014-04-04

    diseases have a high population prevalence, devastating clinical impact and profound societal consequences. As a result, they impose a multi-billion dollar economic burden on Canada and on all advanced societies through direct costs of patient care, the loss of health and productivity, and extensive caregiver burden. There is no definitive treatment at the present time for any of these disorders. The manuscript outlines the research which will involve a systematic assessment of all chromosome 6 genes, development of a knowledge base, and development of assays and reagents for all chromosome 6 proteins. We feel that the informatic infrastructure and MRM assays developed will place the chromosome 6 consortium in an excellent position to be a leading player in this major international research initiative. This article is part of a Special Issue: Can Proteomics Fill the Gap Between Genomics and Phenotypes? © 2013.

  4. Reconstructing spatial organizations of chromosomes through manifold learning.

    Science.gov (United States)

    Zhu, Guangxiang; Deng, Wenxuan; Hu, Hailin; Ma, Rui; Zhang, Sai; Yang, Jinglin; Peng, Jian; Kaplan, Tommy; Zeng, Jianyang

    2018-02-02

    Decoding the spatial organizations of chromosomes has crucial implications for studying eukaryotic gene regulation. Recently, chromosomal conformation capture based technologies, such as Hi-C, have been widely used to uncover the interaction frequencies of genomic loci in a high-throughput and genome-wide manner and provide new insights into the folding of three-dimensional (3D) genome structure. In this paper, we develop a novel manifold learning based framework, called GEM (Genomic organization reconstructor based on conformational Energy and Manifold learning), to reconstruct the three-dimensional organizations of chromosomes by integrating Hi-C data with biophysical feasibility. Unlike previous methods, which explicitly assume specific relationships between Hi-C interaction frequencies and spatial distances, our model directly embeds the neighboring affinities from Hi-C space into 3D Euclidean space. Extensive validations demonstrated that GEM not only greatly outperformed other state-of-art modeling methods but also provided a physically and physiologically valid 3D representations of the organizations of chromosomes. Furthermore, we for the first time apply the modeled chromatin structures to recover long-range genomic interactions missing from original Hi-C data. © The Author(s) 2018. Published by Oxford University Press on behalf of Nucleic Acids Research.

  5. Recombination Proteins Mediate Meiotic Spatial Chromosome Organization and Pairing

    Science.gov (United States)

    Storlazzi, Aurora; Gargano, Silvana; Ruprich-Robert, Gwenael; Falque, Matthieu; David, Michelle; Kleckner, Nancy; Zickler, Denise

    2010-01-01

    SUMMARY Meiotic chromosome pairing involves not only recognition of homology but also juxtaposition of entire chromosomes in a topologically regular way. Analysis of filamentous fungus Sordaria macrospora reveals that recombination proteins Mer3, Msh4 and Mlh1 play direct roles in all of these aspects, in advance of their known roles in recombination. Absence of Mer3 helicase results in interwoven chromosomes, thereby revealing the existence of features that specifically ensure “entanglement avoidance”. Entanglements that remain at zygotene, i.e. “interlockings”, require Mlh1 for resolution, likely to eliminate constraining recombinational connections. Patterns of Mer3 and Msh4 foci along aligned chromosomes show that the double-strand breaks mediating homologous alignment have spatially separated ends, one localized to each partner axis, and that pairing involves interference among developing interhomolog interactions. We propose that Mer3, Msh4 and Mlh1 execute all of these roles during pairing by modulating the state of nascent double-strand break/partner DNA contacts within axis-associated recombination complexes. PMID:20371348

  6. Termini of human chromosomes display elevated rates of mitotic recombination.

    Science.gov (United States)

    Cornforth, M N; Eberle, R L

    2001-01-01

    The strand-specific in situ hybridization technique of CO-FISH was used to probe telomeres of human mitotic cells in order to determine the spontaneous frequency of crossover. This approach allowed the detection of recombinational crossovers occurring anywhere along the length of individual chromosomes, including reciprocal events taking place between sister chromatids. Although the process of sister chromatid exchange (SCE) is the most prominent type of recombination in somatic mammalian cells, our results show that SCEs accounted for less than a third of the recombinational events revealed by CO-FISH. It is concluded that chromosomal regions near the termini of chromosome arms undergo extraordinarily high rates of spontaneous recombination, producing terminal crossovers whose small size precludes detection by standard cytogenetic methods. That similar results were observed for transformed epithelial cells, as well as primary fibroblasts, suggests that the phenomenon is a common characteristic of human cells. These findings are noteworthy because, although telomeric and subtelomeric DNA is known to be preferentially involved in certain types of recombination, the tips of somatic mammalian chromosomes have not previously been identified as preferred sites for crossover. Implications of these results are discussed in terms of limitations imposed on CO-FISH for its proposed use in directional hybridization mapping.

  7. Studies on protective effects of superoxide dismutase on radiation induced-chromosomal aberrations

    International Nuclear Information System (INIS)

    Zheng Siying; Jiang Jiagui; Lin Xingcheng

    1987-09-01

    This study demonstrates that radiation induced-chromosomal aberrations are not only due to the direct effect of radiation h it , but the indirect effect of free radical as well. Therefore, chromosome damage induced by radiation may be reduced by adding exogenous SOD into the radiation exposed lymphocyte culture to eliminate the superoxide free radical which damages DNA. On the other hand, however, the radiosensitivity of lymphocytes can be raised by adding SOD inhibitor (DDC) into the lymphocyte culture, which makes radiation induced-chromosomal damages more severely

  8. How Next-Generation Sequencing Has Aided Our Understanding of the Sequence Composition and Origin of B Chromosomes

    Directory of Open Access Journals (Sweden)

    Alevtina Ruban

    2017-10-01

    Full Text Available Accessory, supernumerary, or—most simply—B chromosomes, are found in many eukaryotic karyotypes. These small chromosomes do not follow the usual pattern of segregation, but rather are transmitted in a higher than expected frequency. As increasingly being demonstrated by next-generation sequencing (NGS, their structure comprises fragments of standard (A chromosomes, although in some plant species, their sequence also includes contributions from organellar genomes. Transcriptomic analyses of various animal and plant species have revealed that, contrary to what used to be the common belief, some of the B chromosome DNA is protein-encoding. This review summarizes the progress in understanding B chromosome biology enabled by the application of next-generation sequencing technology and state-of-the-art bioinformatics. In particular, a contrast is drawn between a direct sequencing approach and a strategy based on a comparative genomics as alternative routes that can be taken towards the identification of B chromosome sequences.

  9. [Analysis of genetics mechanism for the phenotypic diversity in a patient carrying a rare ring chromosome 9].

    Science.gov (United States)

    Qin, Shengfang; Wang, Xueyan; Li, Yunxing; Wei, Ping; Chen, Chun; Zeng, Lan

    2016-02-01

    To explore the genetics mechanism for the phenotypic variability in a patient carrying a rare ring chromosome 9. The karyotype of the patient was analyzed with cytogenetics method. Presence of sex chromosome was confirmed with fluorescence in situ hybridization. The SRY gene was subjected to PCR amplification and direct sequencing. Potential deletion and duplication were detected with array-based comparative genomic hybridization (array-CGH). The karyotype of the patient has comprised 6 types of cell lines containing a ring chromosome 9. The SRY gene sequence was normal. By array-CGH, the patient has carried a hemizygous deletion at 9p24.3-p23 (174 201-9 721 761) encompassing 30 genes from Online Mendelian Inheritance in Man. The phenotypic variability of the 9p deletion syndrome in conjunct with ring chromosome 9 may be attributable to multiple factors including loss of chromosomal material, insufficient dosage of genes, instability of ring chromosome, and pattern of inheritance.

  10. Chromosomal abnormalities in human glioblastomas: gain in chromosome 7p correlating with loss in chromosome 10q.

    Science.gov (United States)

    Inda, María del Mar; Fan, Xing; Muñoz, Jorge; Perot, Christine; Fauvet, Didier; Danglot, Giselle; Palacio, Ana; Madero, Pilar; Zazpe, Idoya; Portillo, Eduardo; Tuñón, Teresa; Martínez-Peñuela, José María; Alfaro, Jorge; Eiras, José; Bernheim, Alain; Castresana, Javier S

    2003-01-01

    Various genomic alterations have been detected in glioblastoma. Chromosome 7p, with the epidermal growth factor receptor locus, together with chromosome 10q, with the phosphatase and tensin homologue deleted in chromosome 10 and deleted in malignant brain tumors-1 loci, and chromosome 9p, with the cyclin-dependent kinase inhibitor 2A locus, are among the most frequently damaged chromosomal regions in glioblastoma. In this study, we evaluated the genetic status of 32 glioblastomas by comparative genomic hybridization; the sensitivity of comparative genomic hybridization versus differential polymerase chain reaction to detect deletions at the phosphatase and tensin homologue deleted in chromosome 10, deleted in malignant brain tumors-1, and cyclin-dependent kinase inhibitor 2A loci and amplifications at the cyclin-dependent kinase 4 locus; the frequency of genetic lesions (gain or loss) at 16 different selected loci (including oncogenes, tumor-suppressor genes, and proliferation markers) mapping on 13 different chromosomes; and the possible existence of a statistical association between any pair of molecular markers studied, to subdivide the glioblastoma entity molecularly. Comparative genomic hybridization showed that the most frequent region of gain was chromosome 7p, whereas the most frequent losses occurred on chromosomes 10q and 13q. The only statistically significant association was found for 7p gain and 10q loss. Copyright 2002 Wiley-Liss, Inc.

  11. Persistence of chromosomal abnormalities additional to the Philadelphia chromosome after Philadelphia chromosome disappearance during imatinib therapy for chronic myeloid leukemia.

    Science.gov (United States)

    Zaccaria, Alfonso; Valenti, Anna Maria; Donti, Emilio; Gozzetti, Alessandro; Ronconi, Sonia; Spedicato, Francesco

    2007-04-01

    Five Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML) patients with additional chromosome abnormalities at diagnosis have been followed during Imatinib therapy. In all, the Ph chromosome disappeared, while the 5 cases, additional abnormalities [dup(1); del(5), +8 (2 patients) and +14] persisted in the subsequent studies, performed over a period of 11 to 49 months, either alone or together with a karyotypically normal cell population. This finding is consistent with a secondary origin of the Ph chromosome in these patients. It is still to early to evaluate the possible prognostic value of these additional abnormalities.

  12. Chromosomes

    Science.gov (United States)

    ... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

  13. Chromosome engineering: power tools for plant genetics.

    Science.gov (United States)

    Chan, Simon W L

    2010-12-01

    The term "chromosome engineering" describes technologies in which chromosomes are manipulated to change their mode of genetic inheritance. This review examines recent innovations in chromosome engineering that promise to greatly increase the efficiency of plant breeding. Haploid Arabidopsis thaliana have been produced by altering the kinetochore protein CENH3, yielding instant homozygous lines. Haploid production will facilitate reverse breeding, a method that downregulates recombination to ensure progeny contain intact parental chromosomes. Another chromosome engineering success is the conversion of meiosis into mitosis, which produces diploid gametes that are clones of the parent plant. This is a key step in apomixis (asexual reproduction through seeds) and could help to preserve hybrid vigor in the future. New homologous recombination methods in plants will potentiate many chromosome engineering applications. Copyright © 2010 Elsevier Ltd. All rights reserved.

  14. Advances in plant chromosome genomics

    Czech Academy of Sciences Publication Activity Database

    Doležel, Jaroslav; Vrána, Jan; Cápal, Petr; Kubaláková, Marie; Burešová, Veronika; Šimková, Hana

    2014-01-01

    Roč. 32, č. 1 (2014), s. 122-136 ISSN 0734-9750 R&D Projects: GA ČR GAP501/10/1740; GA ČR GAP501/10/1778; GA ČR GBP501/12/G090; GA MŠk(CZ) LO1204 Grant - others:GA MŠk(CZ) ED0007/01/01 Program:ED Institutional support: RVO:61389030 Keywords : BAC library * Chromosome sorting * Cytogenetics Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 9.015, year: 2014

  15. First-trimester ADAM12 and PAPP-A as markers for intrauterine fetal growth restriction through their roles in the insulin-like growth factor system.

    Science.gov (United States)

    Cowans, Nicholas J; Spencer, Kevin

    2007-03-01

    PAPP-A is a marker used as part of the most effective method of screening for chromosomal anomalies in the first trimester. ADAM12 is a recently discovered pregnancy associated member of the ADAM (a multidomain glycoprotein metalloprotease) family. Recently, ADAM12 has been shown as a potential marker for early screening for chromosomal anomalies. Both PAPP-A and ADAM12 have been identified as proteases to insulin-like growth factor binding proteins. In this role, they may have a regulatory function in controlling the amount of free bioactive insulin-like growth factor (IGF). We therefore wish to examine if the levels of either of these proteases are related to various growth related adverse pregnancy outcomes. PAPP-A and ADAM12 were measured in a subset of samples collected at 11 to 14 weeks as part of an OSCAR clinic screening for chromosomal anomalies. Follow-up of pregnancies screened between September 1999 and August 2003 identified 1705 pregnancies with an outcome of intrauterine fetal demise on or after 24 weeks, preterm delivery at 24-34 weeks or 35-36 weeks, very low birthweight (4.5 kg), and birth weight below the 3rd or 5th or 10th centile for gestation. A series of 414 normal outcome pregnancies constituted the control group. Marker levels were adjusted for gestation and maternal weight and the log MoM of the markers were compared using t-test of unequal variance between the control group and the various adverse outcome groups. ADAM12 and PAPP-A concentrations were reduced in low for gestational age birth weights and in all births with weights below 2.5 kg. There was a linear relationship between the severity of the IUGR and the decrease in PAPP-A and ADAM12. In the larger babies, only ADAM12 was found to be significantly increased in babies above the 90th centile of weight for gestation. The results of our study are compatible with the proposed role of ADAM12 and PAPP-A in promoting growth and development by breaking down IGF binding proteins and

  16. The maternal age-related first trimester risks for trisomy 21, 18 and 13 based on Danish first trimester data from 2005 to 2014

    DEFF Research Database (Denmark)

    Hartwig, Tanja Schlaikjær; Sørensen, Steen; Jørgensen, Finn Stener

    2016-01-01

    OBJECTIVES: Most currently used age-related risks of T21, T18 and T13 are based on estimates of the live-birth prevalence, and describe an exponential increase of risk by increased maternal age. We investigated the first trimester prevalence of T21, T18 and T13 in a large population of Danish women......) / slope)) was found to best describe the age-related risk of T21, T18 and T13. CONCLUSION: We found that the age-related risks are better described by sigmoidal functions, contrary to the widely assumed exponential functions. Our results indicate a lower age-related a priori risk of T21, T18 and T13...

  17. Giemsa C-banding of Barley Chromosomes. IV. Chromosomal Constitution of Autotetraploid Barley

    DEFF Research Database (Denmark)

    Linde-Laursen, Ib

    1984-01-01

    The progeny of an autotetraploid barley plant (C1) consisted of 45 tetraploids and 33 aneuploids. Giemsa C-banding was used to identify each of the chromosomes in 20 euploid and 31 aneuploid C2--seedlings, and in 11 C3--offspring of aneuploid C2--plants. The euploid C2--seedlings all had four...... homologues of each of the chromosomes. The aneuploid C2--seedlings were fairly equally distributed on hypo-and hyperploids, and on the seven chromosome groups. This suggests that a particular chromosome is lost or gained at random in gametes and embryos. The 11 C3--seedlings comprised seven true euploids......, one seedling with 2n=28 having an extra chromosome 6 and missing one chromosome 3, and three seedlings with 2n=29. The chromosomal composition of aneuploid C3--seedlings did not reflect that of their aneuploid C2--parents with respect to missing or extra chromosomes. Two hypohexaploid C2--seedlings...

  18. Exceptional Complex Chromosomal Rearrangements in Three Generations

    Directory of Open Access Journals (Sweden)

    Hannie Kartapradja

    2015-01-01

    Full Text Available We report an exceptional complex chromosomal rearrangement (CCR found in three individuals in a family that involves 4 chromosomes with 5 breakpoints. The CCR was ascertained in a phenotypically abnormal newborn with additional chromosomal material on the short arm of chromosome 4. Maternal karyotyping indicated that the mother carried an apparently balanced CCR involving chromosomes 4, 6, 11, and 18. Maternal transmission of the derivative chromosome 4 resulted in partial trisomy for chromosomes 6q and 18q and a partial monosomy of chromosome 4p in the proband. Further family studies found that the maternal grandmother carried the same apparently balanced CCR as the proband’s mother, which was confirmed using the whole chromosome painting (WCP FISH. High resolution whole genome microarray analysis of DNA from the proband’s mother found no evidence for copy number imbalance in the vicinity of the CCR translocation breakpoints, or elsewhere in the genome, providing evidence that the mother’s and grandmother’s CCRs were balanced at a molecular level. This structural rearrangement can be categorized as an exceptional CCR due to its complexity and is a rare example of an exceptional CCR being transmitted in balanced and/or unbalanced form across three generations.

  19. Evaluation of Chromosomal Abnormalities and Common ...

    African Journals Online (AJOL)

    Evaluation of Chromosomal Abnormalities and Common Trombophilic Mutations in Cases with Recurrent Miscarriage. Ahmet Karatas, Recep Eroz, Mustafa Albayrak, Tulay Ozlu, Bulent Cakmak, Fatih Keskin ...

  20. Reflections and meditations upon complex chromosomal exchanges.

    Science.gov (United States)

    Savage, John R K

    2002-12-01

    The application of FISH chromosome painting techniques, especially the recent mFISH (and its equivalents) where all 23 human chromosome pairs can be distinguished, has demonstrated that many chromosome-type structural exchanges are much more complicated (involving more "break-rejoins" and arms) than has hitherto been assumed. It is clear that we have been greatly under-estimating the damage produced in chromatin by such agents as ionising radiation. This article gives a brief historical summary of observations leading up to this conclusion, and after outlining some of the problems surrounding the formation of complex chromosomes exchanges, speculates about possible solutions currently being proposed.

  1. Chromosomal aberrations in ore miners of Slovakia

    International Nuclear Information System (INIS)

    Beno, M.; Vladar, M.; Nikodemova, D.; Vicanova, M.; Durcik, M.

    1998-01-01

    A pilot study was performed in which the incidence of chromosomal aberrations in lymphocytes of miners in ore mines located in Central Slovakia was monitored and related to lifetime underground radon exposure and to lifetime smoking. The conclusions drawn from the results of the study were as follows: the counts of chromosomal aberrations in lymphocytes of miners were significantly higher than in an age matched control group of white-collar staff; the higher counts of chromosomal aberrations could be ascribed to underground exposure of miners and to smoking; a dependence of chromosomal aberration counts on the exposure to radon could not be assessed. (A.K.)

  2. Chromosome heteromorphisms in the Japanese, 3

    International Nuclear Information System (INIS)

    Sofuni, Toshio; Awa, A.A.

    1982-12-01

    The type and frequency of chromosome variants detected by the C-staining method were ascertained in 1,857 individuals residing in Hiroshima. The most frequent heteromorphic variant was the total inversion of the C-band in chromosome 9 found in 27 individuals (1.45%). The total inversion of the C-band in chromosome 1 was not seen in this sample, but the partial inversion of the C-band in chromosome 1 was found in 18 persons (0.97%). Partial inversion was also detected in the C-band in chromosome 9 in 22 individuals (1.18%). In chromosome 16, neither total nor partial inversion of the C-band was observed in the present study. The frequencies of chromosomes 1, 9, and 16 with a very large C-band were 0.70%, 0.22%, and 0.54%, respectively. Aside from these (1, 9, and 16) a very large C-band was found occasionally in chromosomes 4, 5, 6, 11, 12, 14, and 15, and an unusual insertion of the Y chromosome was observed. A total of 128 C-band variants (6.89%) was found in the 1,857 Hiroshima residents. (author)

  3. Widespread over-expression of the X chromosome in sterile F₁hybrid mice.

    Directory of Open Access Journals (Sweden)

    Jeffrey M Good

    2010-09-01

    Full Text Available The X chromosome often plays a central role in hybrid male sterility between species, but it is unclear if this reflects underlying regulatory incompatibilities. Here we combine phenotypic data with genome-wide expression data to directly associate aberrant expression patterns with hybrid male sterility between two species of mice. We used a reciprocal cross in which F₁ males are sterile in one direction and fertile in the other direction, allowing us to associate expression differences with sterility rather than with other hybrid phenotypes. We found evidence of extensive over-expression of the X chromosome during spermatogenesis in sterile but not in fertile F₁ hybrid males. Over-expression was most pronounced in genes that are normally expressed after meiosis, consistent with an X chromosome-wide disruption of expression during the later stages of spermatogenesis. This pattern was not a simple consequence of faster evolutionary divergence on the X chromosome, because X-linked expression was highly conserved between the two species. Thus, transcriptional regulation of the X chromosome during spermatogenesis appears particularly sensitive to evolutionary divergence between species. Overall, these data provide evidence for an underlying regulatory basis to reproductive isolation in house mice and underscore the importance of transcriptional regulation of the X chromosome to the evolution of hybrid male sterility.

  4. Widespread Over-Expression of the X Chromosome in Sterile F1 Hybrid Mice

    Science.gov (United States)

    Good, Jeffrey M.; Giger, Thomas; Dean, Matthew D.; Nachman, Michael W.

    2010-01-01

    The X chromosome often plays a central role in hybrid male sterility between species, but it is unclear if this reflects underlying regulatory incompatibilities. Here we combine phenotypic data with genome-wide expression data to directly associate aberrant expression patterns with hybrid male sterility between two species of mice. We used a reciprocal cross in which F1 males are sterile in one direction and fertile in the other direction, allowing us to associate expression differences with sterility rather than with other hybrid phenotypes. We found evidence of extensive over-expression of the X chromosome during spermatogenesis in sterile but not in fertile F1 hybrid males. Over-expression was most pronounced in genes that are normally expressed after meiosis, consistent with an X chromosome-wide disruption of expression during the later stages of spermatogenesis. This pattern was not a simple consequence of faster evolutionary divergence on the X chromosome, because X-linked expression was highly conserved between the two species. Thus, transcriptional regulation of the X chromosome during spermatogenesis appears particularly sensitive to evolutionary divergence between species. Overall, these data provide evidence for an underlying regulatory basis to reproductive isolation in house mice and underscore the importance of transcriptional regulation of the X chromosome to the evolution of hybrid male sterility. PMID:20941395

  5. Widespread over-expression of the X chromosome in sterile F₁hybrid mice.

    Science.gov (United States)

    Good, Jeffrey M; Giger, Thomas; Dean, Matthew D; Nachman, Michael W

    2010-09-30

    The X chromosome often plays a central role in hybrid male sterility between species, but it is unclear if this reflects underlying regulatory incompatibilities. Here we combine phenotypic data with genome-wide expression data to directly associate aberrant expression patterns with hybrid male sterility between two species of mice. We used a reciprocal cross in which F₁ males are sterile in one direction and fertile in the other direction, allowing us to associate expression differences with sterility rather than with other hybrid phenotypes. We found evidence of extensive over-expression of the X chromosome during spermatogenesis in sterile but not in fertile F₁ hybrid males. Over-expression was most pronounced in genes that are normally expressed after meiosis, consistent with an X chromosome-wide disruption of expression during the later stages of spermatogenesis. This pattern was not a simple consequence of faster evolutionary divergence on the X chromosome, because X-linked expression was highly conserved between the two species. Thus, transcriptional regulation of the X chromosome during spermatogenesis appears particularly sensitive to evolutionary divergence between species. Overall, these data provide evidence for an underlying regulatory basis to reproductive isolation in house mice and underscore the importance of transcriptional regulation of the X chromosome to the evolution of hybrid male sterility.

  6. Chromosomal instability can be induced by the formation of breakage-prone chromosome rearrangement junctions

    International Nuclear Information System (INIS)

    Allen, R.N.; Ritter, L.; Moore, S.R.; Grosovsky, A.J.

    2003-01-01

    Full text: Studies in our lab have led to the hypothesis that chromosomal rearrangements can generate novel breakage-prone sites, resulting in chromosomal instability acting predominantly in cis. For example, specific breakage of large blocks of centromeric region heterochromatin on chromosome 16q by treatment with 2,6-diaminopurine (DAP) is associated with repeated rearrangement of chromosome 16q during outgrowth of DAP-treated clones, thereby establishing a link between the initial site of damage and the occurrence of persistent chromosomal instability. Similarly, karyotypic analysis of gamma ray induced instability demonstrated that chromosomal rearrangements in sub-clones were significantly clustered near the site of previously identified chromosomal rearrangement junctions in unstable parental clones. This study investigates the hypothesis that integration of transfected sequences into host chromosomes could create breakage-prone junction regions and persistent genomic instability without exposure to DNA-damage agents. These junctions may mimic the unstable chromosomal rearrangements induced by DAP or radiation, and thus provide a test of the broader hypothesis that instability can to some extent be attributed to the formation of novel chromosomal breakage hot spots. These experiments were performed using human-hamster hybrid AL cells containing a single human chromosome 11, which was used to monitor instability in a chromosomal painting assay. AL cells were transfected with a 2.5 Kb fragment containing multiple copies of the 180 bp human alpha heterochromatic repeat, which resulted in chromosomal instability in 41% of the transfected clones. Parallel exposure to gamma-radiation resulted in a similar level of chromosomal instability, although control transfections with plasmid alone did not lead to karyotypic instability. Chromosomal instability induced by integration of alpha heterochromatic repeats was also frequently associated with delayed reproductive

  7. Chromosomal replicons of higher plants

    International Nuclear Information System (INIS)

    Van't Hof, J.

    1987-01-01

    This brief discussion of replicons of higher plants offers a glimpse into the properties of chromosomal DNA replication. It gives evidence that the S phase of unrelated plant species is comprised of temporally ordered replicon families that increase in number with genome size. This orderly process, which assures a normal inheritance of genetic material to recipient daughter cells, is maintained at the level of replicon clusters by two mutually exclusive mechanisms, one involving the rate at which single replicons replicate their allotment of DNA, and another by means of the tempo-pause. The same two mechanisms are used by cells to alter the pattern of chromosomal DNA replication just prior to and during normal development. Both mechanisms are genetically determined and produce genetic effects when disturbed of disrupted by additional non-conforming DNAs. Further insight into how these two mechanisms operate requires more molecular information about the nature of replicons and the factors that govern when a replicon family replicates. Plant material is a rich and ideal source for this information just awaiting exploitation. 63 refs

  8. Increased chromosome radiosensitivity during pregnancy

    International Nuclear Information System (INIS)

    Ricoul, Michelle; Sabatier, Laure; Dutrillaux, Bernard

    1997-01-01

    It was necessary to consider the risks of exposure of pregnant women, not only in relation to the child, but also in relation to their own hypersensitivity. We have demonstrated that pregnancy increases radiosensitivity of chromosome in the mouse at the end of gestation. This is of importance since it may have implications on radioprotection of pregnant women and give experimental guidelines to the problems of hypersensitivity to drugs and cancer aggravation during pregnancy. Blood obtained from women at various times of pregnancy was exposed to ionizing radiations. By comparison to non-pregnant women, an increase in chromosome breakage was observed in metaphases from lymphocytes, after short-term culture in the presence of the serum of the same donor. Immediately after delivery, this increase in radiosensitivity disappeared. In a prospective study, serial analyses showed a very strong correlation between the amount of pregnancy hormones, progesterone in particular, and the increase in radiosensitivity. Pregnant women may have an increased sensitivity to ionizing radiation during the second half of their pregnancy. This study provides the first evidence in human that radiosensitivity may vary in relation to physiological conditions

  9. Selfish X chromosomes and speciation.

    Science.gov (United States)

    Patten, Manus M

    2017-12-27

    In two papers published at about the same time almost thirty years ago, Frank (Evolution, 45, 1991a, 262) and Hurst and Pomiankowski (Genetics, 128, 1991, 841) independently suggested that divergence of meiotic drive systems-comprising genes that cheat meiosis and genes that suppress this cheating-might provide a general explanation for Haldane's rule and the large X-effect in interspecific hybrids. Although at the time, the idea was met with skepticism and a conspicuous absence of empirical support, the tide has since turned. Some of the clearest mechanistic explanations we have for hybrid male sterility involve meiotic drive systems, and several other cases of hybrid sterility are suggestive of a role for meiotic drive. In this article, I review these ideas and their descendants and catalog the current evidence for the meiotic drive model of speciation. In addition, I suggest that meiotic drive is not the only intragenomic conflict to involve the X chromosome and contribute to hybrid incompatibility. Sexually and parentally antagonistic selection pressures can also pit the X chromosome and autosomes against each other. The resulting intragenomic conflicts should lead to co-evolution within populations and divergence between them, thus increasing the likelihood of incompatibilities in hybrids. I provide a sketch of these ideas and interpret some empirical patterns in the light of these additional X-autosome conflicts. © 2017 John Wiley & Sons Ltd.

  10. Exchange of core chromosomes and horizontal transfer of lineage-specific chromosomes in Fusarium oxysporum

    NARCIS (Netherlands)

    Vlaardingerbroek, I.; Beerens, B.; Rose, L.; Fokkens, L.; Cornelissen, B.J.C.; Rep, M.

    2016-01-01

    Horizontal transfer of supernumerary or lineage-specific (LS) chromosomes has been described in a number of plant pathogenic filamentous fungi. So far it was not known whether transfer is restricted to chromosomes of certain size or properties, or whether 'core' chromosomes can also undergo

  11. Stabilization of chromosomes by DNA intercalators for flow karyotyping and identification by banding of isolated chromosomes

    NARCIS (Netherlands)

    Aten, J. A.; Buys, C. H.; van der Veen, A. Y.; Mesa, J. R.; Yu, L. C.; Gray, J. W.; Osinga, J.; Stap, J.

    1987-01-01

    A number of structurally unrelated DNA intercalators have been studied as stabilizers of mitotic chromosomes during isolation from rodent and human metaphase cells. Seven out of the nine intercalators tested were found to be useful as chromosome stabilizing agents. Chromosome suspensions prepared in

  12. Interaction between the SLC19A1 gene and maternal first trimester fever on offspring neural tube defects.

    Science.gov (United States)

    Pei, Lijun; Zhu, Huiping; Ye, Rongwei; Wu, Jilei; Liu, Jianmeng; Ren, Aiguo; Li, Zhiwen; Zheng, Xiaoying

    2015-01-01

    Many studies have indicated that the reduced folate carrier gene (SLC19A1) is associated with an increased risk of neural tube defects (NTDs). However, the interaction between the SLC19A1 gene variant and maternal fever exposure and NTD risk remains unknown. The aim of this study was to investigate whether the risk for NTDs was influenced by the interactions between the SLC19A1 (rs1051266) variant and maternal first trimester fever. We investigated the potential interaction between maternal first trimester fever and maternal or offspring SLC19A1 polymorphism through a population-based case-control study. One hundred and four nuclear families with NTDs and 100 control families with nonmal newborns were included in the study. SLC19A1 polymorphism was determined using polymerase chain reaction-restricted fragment length polymorphism. Mothers who had the GG/GA genotype and first trimester fever had an elevated risk of NTDs (adjusted odds ratio, 11.73; 95% confidence interval, 3.02-45.58) as compared to absence of maternal first trimester fever and AA genotype after adjusting for maternal education, paternal education, and age, and had a significant interactive coefficient (γ = 3.17) between maternal GG/GA genotype and first trimester fever. However, there was no interaction between offspring's GG/GA genotype and maternal first trimester fever (the interactive coefficient γ = 0.97) after adjusting for confounding factors. Our findings suggested that the risk of NTDs was potentially influenced by a gene-environment interaction between maternal SLC19A1 rs1051266 GG/GA genotype and first trimester fever. Maternal GG/GA genotype may strengthen the effect of maternal fever exposure on NTD risk in this Chinese population. © 2014 Wiley Periodicals, Inc.

  13. Dating of Pregnancy in First versus Second Trimester in Relation to Post-Term Birth Rate: A Cohort Study.

    Directory of Open Access Journals (Sweden)

    Ida Näslund Thagaard

    Full Text Available To evaluate in a national standardised setting whether the performance of ultrasound dating during the first rather than the second trimester of pregnancy had consequences regarding the definition of pre- and post-term birth rates.A cohort study of 8,551 singleton pregnancies with spontaneous delivery was performed from 2006 to 2012 at Copenhagen University Hospital, Holbæk, Denmark. We determined the duration of pregnancy calculated by last menstrual period, crown rump length (CRL, biparietal diameter (1st trimester, BPD (2nd trimester, and head circumference and compared mean and median durations, the mean differences, the systematic discrepancies, and the percentages of pre-term and post-term pregnancies in relation to each method. The primary outcomes were post-term and pre-term birth rates defined by different dating methods.The change from use of second to first trimester measurements for dating was associated with a significant increase in the rate of post-term deliveries from 2.1-2.9% and a significant decrease in the rate of pre-term deliveries from 5.4-4.6% caused by systematic discrepancies. Thereby 25.1% would pass 41 weeks when GA is defined by CRL and 17.3% when BPD (2nd trimester is used. Calibration for these discrepancies resulted in a lower post-term birth rate, from 3.1-1.4%, when first compared to second trimester dating was used.Systematic discrepancies were identified when biometric formulas were used to determine duration of pregnancy. This should be corrected in clinical practice to avoid an overestimation of post-term birth and unnecessary inductions when first trimester formulas are used.

  14. Dating of Pregnancy in First versus Second Trimester in Relation to Post-Term Birth Rate: A Cohort Study.

    Science.gov (United States)

    Näslund Thagaard, Ida; Krebs, Lone; Lausten-Thomsen, Ulrik; Olesen Larsen, Severin; Holm, Jens-Christian; Christiansen, Michael; Larsen, Torben

    2016-01-01

    To evaluate in a national standardised setting whether the performance of ultrasound dating during the first rather than the second trimester of pregnancy had consequences regarding the definition of pre- and post-term birth rates. A cohort study of 8,551 singleton pregnancies with spontaneous delivery was performed from 2006 to 2012 at Copenhagen University Hospital, Holbæk, Denmark. We determined the duration of pregnancy calculated by last menstrual period, crown rump length (CRL), biparietal diameter (1st trimester), BPD (2nd trimester), and head circumference and compared mean and median durations, the mean differences, the systematic discrepancies, and the percentages of pre-term and post-term pregnancies in relation to each method. The primary outcomes were post-term and pre-term birth rates defined by different dating methods. The change from use of second to first trimester measurements for dating was associated with a significant increase in the rate of post-term deliveries from 2.1-2.9% and a significant decrease in the rate of pre-term deliveries from 5.4-4.6% caused by systematic discrepancies. Thereby 25.1% would pass 41 weeks when GA is defined by CRL and 17.3% when BPD (2nd trimester) is used. Calibration for these discrepancies resulted in a lower post-term birth rate, from 3.1-1.4%, when first compared to second trimester dating was used. Systematic discrepancies were identified when biometric formulas were used to determine duration of pregnancy. This should be corrected in clinical practice to avoid an overestimation of post-term birth and unnecessary inductions when first trimester formulas are used.

  15. Trimester-specific reference intervals for haemoglobin A(1c) (HbA(1c)) in pregnancy.

    LENUS (Irish Health Repository)

    O'Connor, Catherine

    2011-11-26

    Abstract Background: Diabetes in pregnancy imposes additional risks to both mother and infant. These increased risks are considered to be primarily related to glycaemic control which is monitored by means of glycated haemoglobin (HbA(1c)). The correlation of HbA(1c) with clinical outcomes emphasises the need to measure HbA(1c) accurately, precisely and for correct interpretation, comparison to appropriately defined reference intervals. Since July 2010, the HbA(1c) assay in Irish laboratories is fully metrologically traceable to the IFCC standard. The objective was to establish trimester-specific reference intervals in pregnancy for IFCC standardised HbA(1c) in non-diabetic Caucasian women. Methods: The authors recruited 311 non-diabetic Caucasian pregnant (n=246) and non-pregnant women (n=65). A selective screening based on risk factors for gestational diabetes was employed. All subjects had a random plasma glucose <7.7 mmol\\/L and normal haemoglobin level. Pregnancy trimester was defined as trimester 1 (T1, n=40) up to 12 weeks +6 days, trimester 2 (T2, n=106) 13-27 weeks +6 days, trimester 3 (T3, n=100) >28 weeks to term. Results: The normal HbA(1c) reference interval for Caucasian non-pregnant women was 29-37 mmol\\/mol (Diabetes Control and Complications Trial; DCCT: 4.8%-5.5%), T1: 24-36 mmol\\/mol (DCCT: 4.3%-5.4%), T2: 25-35 mmol\\/mol (DCCT: 4.4%-5.4%) and T3: 28-39 mmol\\/mol (DCCT: 4.7%-5.7%). HbA(1c) was significantly decreased in trimesters 1 and 2 compared to non-pregnant women. Conclusions: HbA(1c) trimester-specific reference intervals are required to better inform the management of pregnancies complicated by diabetes.

  16. Chromosome-wise dissection of the genome of the extremely big mouse line DU6i.

    Science.gov (United States)

    Bevova, Marianna R; Aulchenko, Yurii S; Aksu, Soner; Renne, Ulla; Brockmann, Gudrun A

    2006-01-01

    The extreme high-body-weight-selected mouse line DU6i is a polygenic model for growth research, harboring many small-effect QTL. We dissected the genome of this line into 19 autosomes and the Y chromosome by the construction of a new panel of chromosome substitution strains (CSS). The DU6i chromosomes were transferred to a DBA/2 mice genetic background by marker-assisted recurrent backcrossing. Mitochondria and the X chromosome were of DBA/2 origin in the backcross. During the construction of these novel strains, >4000 animals were generated, phenotyped, and genotyped. Using these data, we studied the genetic control of variation in body weight and weight gain at 21, 42, and 63 days. The unique data set facilitated the analysis of chromosomal interaction with sex and parent-of-origin effects. All analyzed chromosomes affected body weight and weight gain either directly or in interaction with sex or parent of origin. The effects were age specific, with some chromosomes showing opposite effects at different stages of development.

  17. Meiotic recombination analyses of individual chromosomes in male domestic pigs (Sus scrofa domestica.

    Directory of Open Access Journals (Sweden)

    Nicolas Mary

    Full Text Available For the first time in the domestic pig, meiotic recombination along the 18 porcine autosomes was directly studied by immunolocalization of MLH1 protein. In total, 7,848 synaptonemal complexes from 436 spermatocytes were analyzed, and 13,969 recombination sites were mapped. Individual chromosomes for 113 of the 436 cells (representing 2,034 synaptonemal complexes were identified by immunostaining and fluorescence in situ hybridization (FISH. The average total length of autosomal synaptonemal complexes per cell was 190.3 µm, with 32.0 recombination sites (crossovers, on average, per cell. The number of crossovers and the lengths of the autosomal synaptonemal complexes showed significant intra- (i.e. between cells and inter-individual variations. The distributions of recombination sites within each chromosomal category were similar: crossovers in metacentric and submetacentric chromosomes were concentrated in the telomeric regions of the p- and q-arms, whereas two hotspots were located near the centromere and in the telomeric region of acrocentrics. Lack of MLH1 foci was mainly observed in the smaller chromosomes, particularly chromosome 18 (SSC18 and the sex chromosomes. All autosomes displayed positive interference, with a large variability between the chromosomes.

  18. [Mechanistic modelling allows to assess pathways of DNA lesion interactions underlying chromosome aberration formation].

    Science.gov (United States)

    Eĭdel'man, Iu A; Slanina, S V; Sal'nikov, I V; Andreev, S G

    2012-12-01

    The knowledge of radiation-induced chromosomal aberration (CA) mechanisms is required in many fields of radiation genetics, radiation biology, biodosimetry, etc. However, these mechanisms are yet to be quantitatively characterised. One of the reasons is that the relationships between primary lesions of DNA/chromatin/chromosomes and dose-response curves for CA are unknown because the pathways of lesion interactions in an interphase nucleus are currently inaccessible for direct experimental observation. This article aims for the comparative analysis of two principally different scenarios of formation of simple and complex interchromosomal exchange aberrations: by lesion interactions at chromosome territories' surface vs. in the whole space of the nucleus. The analysis was based on quantitative mechanistic modelling of different levels of structures and processes involved in CA formation: chromosome structure in an interphase nucleus, induction, repair and interactions of DNA lesions. It was shown that the restricted diffusion of chromosomal loci, predicted by computational modelling of chromosome organization, results in lesion interactions in the whole space of the nucleus being impossible. At the same time, predicted features of subchromosomal dynamics agrees well with in vivo observations and does not contradict the mechanism of CA formation at the surface of chromosome territories. On the other hand, the "surface mechanism" of CA formation, despite having certain qualities, proved to be insufficient to explain high frequency of complex exchange aberrations observed by mFISH technique. The alternative mechanism, CA formation on nuclear centres is expected to be sufficient to explain frequent complex exchanges.

  19. Simulation analysis of 9033 cases of second trimester maternal serum screening for Down’s syndrome

    Directory of Open Access Journals (Sweden)

    Shu-fang JIANG

    2017-06-01

    Full Text Available Objective To reduce the screening positive rate (SPR and improve clinical efficiency of maternal serum screening for Down's syndrome. Methods Nine thousand and thirty-three cases of second trimester maternal serum screening for Down's syndrome were included from Apr. 2013 to Apr. 2014 in the present study. The screening results, all basic data and equation curves were analyzed retrospectively. Based on the data from the authors' laboratory, the important adjustment parameters were simulated. Combined with postnatal follow-up results, the quality and clinical performance of second trimester serum screening for Down's syndrome were evaluated. Results The SPR of second trimester serum screening for Down's syndrome was 6.69%(604/9033, the detection rate (DR was 75%(3/4, and FPR was 6.65%(601/9033. The median multiple of median (MOM of alpha-fetoprotein (AFP was low and SPR was high, and MOM of free human chorionic gonadotropin β subunit (free hCGβ were high and SPR was high, while MOM of unconjugated estriol (uE3 were a little bit low, and SPR was slightly high. Considering these three factors, it is believed that the screening positive rate is high. By the simulation adjustments of MOM value equations (AFP and free hCGβ and weight correction equation, the SPR reduced to 4.11%(371/9033 after recalculating the risk, FPR declined to 4.07%(368/9033, and no more Down's syndrome fetus were missed compared with postnatal follow-up results. Conclusion Based on a localized setting depending on the local laboratory data, we suggest that the MOM value distributions(AFP, free hCGβ and uE3 and maternal weight should be regularly adjusted since it is a useful way to reduce the false-positive rate and improve clinical efficiency of maternal serum screening for Down's syndrome. DOI: 10.11855/j.issn.0577-7402.2017.04.13

  20. Comparison of oral and vaginal misoprostol for cervical ripening before evacuation of first trimester missed miscarriage

    International Nuclear Information System (INIS)

    Jabir, Maysoon M.; Smeet, Rania I.

    2009-01-01

    Objective was to assess the effectiveness of misoprostol in cervical ripening before evacuation of conception in the first trimester missed miscarriages and to compare between oral and vaginal routes of administration. A randomized control study was carried out in Baghdad Teaching Hospital, Baghdad, Iraq in 2006. One hundred and twenty women with first fist trimester missed miscarriages were divided into 2 study groups, randomized for oral and vaginal (400 mcg) misoprostol priming of cervix and 2 control groups randomized for oral and vaginal placebo, before undergoing surgical evacuation of conception after 3 hours. Measured outcomes were: post medication cervical dilatation, time needed to dilate the cervix surgically, blood loss and developments of the side effects of misoprostol. Post medication cervical dilation was higher in the misoprostol group (7.07+-1.36 mm for oral misoprostol, 7.77+-1.22 mm for vaginal misoprostol), versus the control groups (2.43+-0.5 mm). Post medication cervical dilatation was significantly higher in the vaginal misoprostol group, compared to the oral group (p=0.04). The time required to dilate the cervix in the misoprostol group was shorter, compared with placebo. There were no significant differences in the amount of blood loss between oral (p=0.074) and vaginal misoprostol groups (p=0.62) and gastrointestinal side effects were significantly more in the oral misoprostol group (p=0.014). Misoprostol is an effective cervical priming agent when administered either orally or vaginally before evacuation of conception in the termination of the first trimester missed miscarriage. (author)

  1. Proteomic Analysis of Early Mid-Trimester Amniotic Fluid Does Not Predict Spontaneous Preterm Delivery

    Science.gov (United States)

    Lenco, Juraj; Vajrychova, Marie; Link, Marek; Tambor, Vojtech; Liman, Victor; Bullarbo, Maria; Nilsson, Staffan; Tsiartas, Panagiotis; Cobo, Teresa; Kacerovsky, Marian; Jacobsson, Bo

    2016-01-01

    Objective The aim of this study was to identify early proteomic biomarkers of spontaneous preterm delivery (PTD) in mid-trimester amniotic fluid from asymptomatic women. Methods This is a case-cohort study. Amniotic fluid from mid-trimester genetic amniocentesis (14–19 weeks of gestation) was collected from 2008 to 2011. The analysis was conducted in 24 healthy women with subsequent spontaneous PTD (cases) and 40 randomly selected healthy women delivering at term (controls). An exploratory phase with proteomics analysis of pooled samples was followed by a verification phase with ELISA of individual case and control samples. Results The median (interquartile range (IQR: 25th; 75th percentiles) gestational age at delivery was 35+5 (33+6–36+6) weeks in women with spontaneous PTD and 40+0 (39+1–40+5) weeks in women who delivered at term. In the exploratory phase, the most pronounced differences were found in C-reactive protein (CRP) levels, that were approximately two-fold higher in the pooled case samples than in the pooled control samples. However, we could not verify these differences with ELISA. The median (25th; 75th IQR) CRP level was 95.2 ng/mL (64.3; 163.5) in women with spontaneous PTD and 86.0 ng/mL (51.2; 145.8) in women delivering at term (p = 0.37; t-test). Conclusions Proteomic analysis with mass spectrometry of mid-trimester amniotic fluid suggests CRP as a potential marker of spontaneous preterm delivery, but this prognostic potential was not verified with ELISA. PMID:27214132

  2. COMPARISON OF MISOPROSTOL AND MISOPROSTOL WITH ISOSORBIDE MONONITRATE IN SECOND TRIMESTER TERMINATION OF PREGNANCY

    Directory of Open Access Journals (Sweden)

    Shanthi Sivakumar

    2016-08-01

    Full Text Available BACKGROUND To compare the efficacy and side effect profile of vaginal misoprostol versus misoprostol and isosorbide mononitrate in enhancing cervical ripening in second trimester pregnancy termination. METHODS It is a random clinical trial done in 100 patients for mid trimester termination of pregnancy (between 12 and 24 weeks of gestational age. They were divided into two groups: Group A Combination of 400 mcg of misoprostol and 40 mg of ISMN placed intravaginally. Repeat doses included combination of 400 mcg of misoprostol and 20 mg of ISMN every 4 hours for maximum 4 doses. Group B 400 mcg of misoprostol placed intravaginally every 4 hours for maximum 4 doses for termination. In both the above-mentioned groups, T. mifepristone 600 mg was given orally 36-48 hrs. prior to termination. RESULTS The mean induction abortion interval was significantly less (7 hrs. 36 mins in Group A compared with group B (9 hrs. 55 min. There was no statistical significant difference in the amount of mean dose used in both groups. The complete abortion rate within 48 hrs. in Group A was 94%, which shows no statistical significance when compared with Group B complete abortion rates (80%. However, it is interpreted that on adding ISMN, the number of complete abortion rates are higher. There was no failure of abortion in both the groups. The side effects such as pain abdomen and fever were less in Group A (38% when compared to Group B (78%. CONCLUSION Vaginally administered ISMN seems to be safe and effective method in second trimester pregnancy termination. There is a reduction in hospital stay, manpower, economy spent on patient, and a sense of wellbeing from the patient also.

  3. [Motor behavior of human fetuses during the second trimester of gestation: a longitudinal ultrasound study].

    Science.gov (United States)

    Reynoso, C; Crespo-Eguílaz, N; Alcázar, J L; Narbona, J

    2015-03-01

    The aim of this research is to contribute to knowledge of the normal spontaneous motor behavior of the human fetus during the second trimester of pregnancy. This study focuses on five patterns of spontaneous fetal movement: startle (S), axo-rhizomelic rhythmia (ARR), axial stretching (AS), general movement (GM), and diaphragmatic contraction (DC). A cohort of 13 subjects was followed up using 2D obstetrical ultrasound images at 12, 16, 20, and 24 weeks of gestation. As inclusion criteria, neonatal neurological examination and general movements after eutocic delivery at term were normal in all of the subjects, and their neuromotor and cognitive development until the end of pre-school age were also normal. All these five motor patterns are present at the beginning of the 2(nd) gestational trimester, but their quantitative and qualitative traits are diverse according to gestational ages. The phasic, isolated or rhythmically repeated movements, S and ARR, are prominent at 12 and 16 weeks of gestation, and then their presence gradually diminishes. By contrast, tonic and complex AS and GM movements increase their presence and quality at 20 and 24 weeks. RAR constitute a particular periodic motor pattern not described in previous literature. Moreover, the incidence of DC is progressive throughout the trimester, in clusters of 2-6 arrhythmic and irregular beats. Fetal heart rate increases during fetal motor active periods. All five normal behavioral patterns observed in the ultrasounds reflect the progressive tuning of motor generators in human nervous system during mid-pregnancy. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  4. Woman's body symmetry and oxidative stress in the first trimester of pregnancy.

    Science.gov (United States)

    Żelaźniewicz, Agnieszka; Nowak, Judyta; Pawłowski, Bogusław

    2015-01-01

    High level of oxidative stress (OS) during the first weeks of pregnancy is related to many serious pregnancy complications. Previous studies showed that body fluctuating asymmetry (FA) is related to OS level in men, suggesting that FA is a marker of oxidative balance in an individual. The aim of this study was to analyze if body FA was related to the level of biomarkers of OS in the first trimester of pregnancy. The sample included 34 women in the first trimester of pregnancy, not smoking, and not exposed to toxins in their work environment. The composite FA and levels of two biomarkers of OS, 8-iso-ProstaglandinF2α (an indicator of oxidative damage to lipids) and 8-OH-dG (an indicator of oxidative damage to DNA) were measured. Factors that may affect the level of OS (vitamin supplementation, age, smoking, alcohol drinking, physical activity, and health condition) were controlled. The levels of OS markers in the first trimester of pregnancy correlated positively with women's FA (r = 0.52, P = 0.002 for 8-OH-dG; r = 0.50; P = 0.003 for 8-iso-PGF2α level) and positively with body height (r = 0.37, P = 0.03 for 8-OH-dG level). The level of OS is likely to be a substantial and important fitness trait, and FA may convey information on the level of OS in women. The result confirms that FA is an indicator of biological condition, as suggested by an evolutionary approach to morphological human traits perceived as attractive. © 2015 Wiley Periodicals, Inc.

  5. Comparison of manual vacuum aspiration and sharp curettage in the treatment of first trimester abortions

    International Nuclear Information System (INIS)

    Iftikhar, G.; Tanveer, S.; Gilani, T.A.; Gilani, S.T.A.

    2014-01-01

    To compare the safety and efficacy of manual vacuum aspiration and sharp curettage in the treatment of first trimester abortions. Study Design: Randomized controlled trial. Place and Duration of Study: Department of Gynecology, Social Security Hospital Shahdra Lahore in collaboration with Family Health Hospital Johar Town Lahore, from May 2007 to May 2012. Patients and Methods: Six hundred women admitted with the diagnosis of first trimester less than or equal to 12 weeks abortions were randomly assigned, 300 to manual vacuum aspiration (MVA) and 300 to traditional sharp curettage. Diagnosis of abortion was confirmed by last menstrual period, physical examination and ultrasonography. Results: In total of 600 patients, 300 randomly assigned to MVA and another 300 patients assigned to sharp curettage management were having mean age of 31.8 and 33 yrs respectively. Mean parity was in both groups, mean gestational age 8.9 and 8.2 weeks, mean duration of procedure was 6.4 and 5.8 minutes, duration of hospital stay was 4 and 40 hrs, missed abortion in 47% and 43% patients, incomplete abortion in 53% and 57% patients, cervical dilatation was needed in 1% against 53%, 10% against 8 % experienced mild pain in both groups, no patient of incomplete evacuation against 0.6%, uterine perforation in none against 0.3 %, excessive bleeding was experienced by 0.3% against 0.6% patients in both groups, and patient satisfaction rate was 99% against 99.4% in the two groups respectively. Conclusion: In the management of first trimester pregnancy loss, MVA offers a quick solution to the problem with reduced hospital stay and lower rate of complications. (author)

  6. A COMPARATIVE STUDY OF MIFEPRISTONE AND MISOPROSTOL VERSUS MISOPROSTOL ALONE IN MID TRIMESTER TERMINATION OF PREGNANCY

    Directory of Open Access Journals (Sweden)

    Surendra Nath Soren

    2018-01-01

    Full Text Available BACKGROUND Termination of pregnancy in second trimester continues to be a challenge in developing countries especially in rural areas. There is an exponential rise in complications of abortion along with advancing gestational age. The search is on for an ideal method of abortion, which is reliable, safe and cheap. This study was conducted in M.K.C.G. Medical College and Hospital, Berhampur, from November 2015 to October 2017 with the aim of finding an effective method to induce second trimester abortion within reasonable time with fewer complications. MATERIALS AND METHODS A total of 80 patients were studied to compare combination of mifepristone and misoprostol (30 patients with single drug misoprostol alone (50 patients for second trimester abortion. The Induction Abortion Interval (IAI, success rate, misoprostol dose requirement and side effects with demographic characteristics were compared between the two groups. RESULTS There was a significant difference in the IAI in both the groups. The mean IAI was 562.218 minutes in study group, whereas in control group, IAI was 922.698 minutes. The success rate (complete abortion was 92.5% in study group and 68.4% in control group, and this was statistically significant. Misoprostol dose requirement (average in study group was 1081.48 μg and in control group was 1675.67 μg. More side effects were observed in the control group. CONCLUSION Mifepristone followed by misoprostol was more effective than misoprostol alone as it had a shorter IAI, better success rate, less requirement of misoprostol and fewer side effects.

  7. Impact on obstetric outcome of third-trimester screening for small-for-gestational-age fetuses.

    Science.gov (United States)

    Callec, R; Lamy, C; Perdriolle-Galet, E; Patte, C; Heude, B; Morel, O

    2015-08-01

    To evaluate the performance of screening for small-for-gestational-age (SGA) fetuses by ultrasound biometry at 30-35 weeks' gestation, and to determine the impact of screening on obstetric and neonatal outcomes. For this prospective cohort study, pregnant women were recruited from two French university maternity centers between 2003 and 2006. Performance measures of third-trimester biometry for the prediction of SGA, defined as estimated fetal weight third-trimester ultrasound had a sensitivity of 29.0% (95% CI, 22.5-36.6%) and specificity of 94.2% (95% CI, 93.0-95.2%). Positive and negative predictive values were 30.8% (95% CI, 23.9-38.7%) and 93.7% (95% CI, 92.5-94.8%), respectively. One hundred and ten SGA neonates went undiagnosed at ultrasound. Compared to the TN neonates considered as of normal weight at ultrasound, planned preterm delivery (before 37 weeks) and elective Cesarean section for a fetal growth indication were 2.4 (P = 0.01) and 2.85 (P = 0.003) times more likely to occur, respectively, in the FP group of non-SGA neonates, diagnosed incorrectly as SGA during the antenatal period. There was no statistically significant difference in 5-min Apgar score third-trimester ultrasound screening for SGA seems poor, as it misses the diagnosis of a large number of SGA neonates. The consequences of routine screening for SGA in a low-risk population may lead to unnecessary planned preterm deliveries and elective Cesarean sections in FP pregnancies, without improved neonatal outcome in the FN pregnancies. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

  8. Chromosome Studies in Patients with Polycythaemia Vera after Treatment with {sup 32}P

    Energy Technology Data Exchange (ETDEWEB)

    Millard, Rosemary E.; Kay, H. E.M.; Lawler, S. D. [Royal Marsden Hospital, London (United Kingdom)

    1969-11-15

    direct result of radiation-induced chromosomal breakage. (author)

  9. Adiposity and hyperleptinemia during the first trimester among pregnant women with preeclampsia

    Directory of Open Access Journals (Sweden)

    Yeboah FA

    2017-06-01

    Full Text Available Francis Agyemang Yeboah,1 Robert Amadu Ngala,1 Ahmed Tijani Bawah,2 Henry Asare-Anane,3 Huseini Alidu,2 Abdul-Wahab Mawuko Hamid,2 Joshua Dokurugu Kwame Wumbee4 1Department of Molecular Medicine, Kwame Nkrumah University of Science and Technology, Kumasi, 2Department of Medical Laboratory Science, University of Health and Allied Sciences, Ho, 3Department of Chemical Pathology, School of Biomedical and Allied Health Sciences, University of Ghana, Accra, 4Internal Quality Control Unit, Quality Control Directorate, Kumasi Technical University, Kumasi, Ghana Background: Leptin levels start increasing from the early stages of pregnancy, irrespective of the maternal body mass index. Leptin levels are increased in pregnant women with preeclampsia (PE and may precede the clinical onset of the disease, with peaks occurring around 28 weeks of gestation. This study was aimed at determining whether serum leptin concentration and body fat percentage are significantly altered during the first trimester in pregnancies that subsequently develop PE and whether such changes are useful in predicting the disease.Materials and methods: This was a prospective longitudinal study conducted among pregnant women in Ho municipality. A cohort of 314 pregnant women was monitored from the first antenatal visit to delivery period at the Volta Regional Hospital, Ho, Ghana. Maternal serum leptin and lipid profile were analyzed and body fat percentage determined during first trimester. Body mass index was also calculated.Results: First trimester serum leptin level (P<0.0001 and body fat percentage (P<0.0001 were significantly higher in those who developed PE than those who did not; while triglycerides (P=0.8600, total cholesterol (P=0.5620, high-density lipoprotein (P=0.5880, low-density lipoprotein (P=0.4870 and very low-density lipoprotein (P=0.6540 did not show any significant difference between those with PE and those without PE.Conclusion: Leptin levels are increased

  10. Non-postural serial changes in renal function during the third trimester of normal human pregnancy.

    Science.gov (United States)

    Ezimokhai, M; Davison, J M; Philips, P R; Dunlop, W

    1981-05-01

    Seventeen healthy women were investigated near the beginning and again near the end of the third trimester of their normal pregnancies. Infusion studies were performed in the left lateral position. There was a highly significant decrease in effective renal plasma flow but not in glomerular filtration rate, measured as inulin clearance. Plasma creatinine concentration increased significantly, but the renal handling of creatinine was unchanged; simultaneous 24-hour creatinine clearance showed a tendency to decrease. Serum urate concentration also increased significantly, apparently due to an increase in net tubular reabsorption of urate.

  11. [Genital bacterial carriage during the last trimester of pregnancy and early-onset neonatal sepsis].

    Science.gov (United States)

    Balaka, B; Agbèrè, A; Dagnra, A; Baeta, S; Kessie, K; Assimadi, K

    2005-05-01

    Bacterial infections remain a major cause of morbidity and mortality in newborn infants. To determine the bacterial ecology and pathological status of the genital organs during the last trimester of pregnancy and the germs of the following early-onset neonatal sepsis, in order to evaluate the risk of materno-foetal infections and to find out a drug prophylaxis. Vaginal and endocervical samples, usually taken during the first trimester of pregnancy were delayed and taken during the last trimester of pregnancy. A macroscopic examination described the aspect of the vagina, the cervix uteri, leukorrhea and of possible inflammatory lesions or ulcerations. A microscopic examination searched for parasites, epithelial cells, clue cells and leukocytes. The appropriate bacteriological cultures were performed after reading the Gram stain and scoring the vaginal flora. The clinical and cytobacteriological aspects were used to identify the bacterial ecology and the pathological genital states. An exploration was carried out in every newborn suspected of infection. Genital samples were collected from 306 pregnant women. Among them, 118 were at 29-32 weeks of gestation, 104 at 33-36, and 84 at 37-40. The most frequent germs were C. albicans (33,5%), Enterbacteriaceae (20.3%) including E. coli (10.9%), S. aureus (15.4%), Gardnerella (13.6%), and Trichomonas (10.6%), in monomicrobian (79.2%) and polymicrobian carriage (20.8%). Lower genital tract pathological states such as vaginitis (29.4%), bacterial vaginosis (21.5%) or endocervicitis (10.4%), asymptomatic bacterial carriage (23.5%) and normal genital flora (15%) were identified. These pregnancies led to 334 live births with 27 cases of early-onset neonatal sepsis to which endocervicitis (25%) and vaginosis (19,7%) were most often linked. Genital samples at the last trimester of pregnancy could evaluate the risk of maternofoetal infections and allow to adapt a drug prophylaxis of Enterobacteriaceae, the most frequent germ of

  12. Diagnosis of Pentalogy of Cantrell in the First Trimester Using Transvaginal Sonography and Color Doppler

    Directory of Open Access Journals (Sweden)

    Ayşe Figen Türkçapar

    2015-01-01

    Full Text Available We report the prenatal diagnosis of Cantrell syndrome in the first trimester. During a routine transabdominal ultrasonographic examination, a midline supraumbilical abdominal wall defect including herniated liver and ectopia cordis with a large omphalocele containing the intestines and cystic hygroma was incidentally identified at the 12th week of gestation. A transvaginal sonography examination revealed a severe lumbosacral scoliosis in addition to the inability to visualize the abdominal aorta which was indicative of a severe intracardiac defect. The parents opted for pregnancy to be terminated. In this case report, we discuss the complementary role of transvaginal sonography and Doppler imaging in the diagnosis of Cantrell syndrome in early pregnancy.

  13. Towards Early Biochemical screening for Fetal Aneupliody in the First Trimester

    DEFF Research Database (Denmark)

    Tørring, Niels

    2011-01-01

    Objectives At Aarhus University Hospital, Denmark, the first trimester screening has been performed with the blood sample taken as early as gestational week 7 since 2003. We hereby present the status for the screening program. Methods: The study includes singleton pregnancies with complete first......: Screening for fetal aneuploidy can be performed with good results with the blood sample taken as early as the 7th week of gestation. Taking the blood sample before the 10th gestational week showed a high detection rate of fetal trisomy 21, with no difference in the detection of fetal trisomy 18, 13...

  14. Parvovirus B19 Infection in the First Trimester of Pregnancy and Risk of Fetal Loss

    DEFF Research Database (Denmark)

    Lassen, Jonathan; Jensen, Anne K V; Bager, Peter

    2012-01-01

    in 3 regions in Denmark from 1992 to 1994. Cases of women with fetal loss were identified in the National Patient Register (n = 2,918), and control women with live-born children were identified in the Medical Birth Register (n = 8,429) by matching on age and sampling week. First-trimester serum samples......Because parvovirus B19 infection during pregnancy has been associated with increased risk of fetal loss in small or selected study populations, the authors evaluated the risk in a population-based study. A nested case-control study was conducted by using a population-based screening for syphilis...

  15. Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester

    DEFF Research Database (Denmark)

    Therkelsen, A J; Jensen, P K; Hertz, Jens Michael

    1988-01-01

    First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after transabdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short-term method (24 h incubation) and cell culture. Adequate samples were obtained in 99.1 per cent and in all...... of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short-term method as well as cell culture for cytogenetic...

  16. First-trimester maternal protein intake and childhood kidney outcomes: the Generation R Study.

    Science.gov (United States)

    Miliku, Kozeta; Voortman, Trudy; van den Hooven, Edith H; Hofman, Albert; Franco, Oscar H; Jaddoe, Vincent W V

    2015-07-01

    Nutritional exposures during in utero development may have long-lasting consequences for postnatal renal health. Animal studies suggest that specifically maternal dietary protein intake during pregnancy influences childhood kidney function. We examined the associations of total, animal, and vegetable maternal protein intake during pregnancy with kidney volume and function in school-aged children. This study was conducted in 3650 pregnant women and their children who were participating in a population-based cohort study from early life onward. First-trimester energy-adjusted maternal protein intake was assessed with a food-frequency questionnaire. At the child's age of 6 y, we assessed kidney volume, estimated glomerular filtration rate (eGFR) using serum creatinine and cystatin C concentrations, and microalbuminuria using urine albumin:creatinine ratios. First-trimester maternal total protein intake was associated with a higher childhood creatinine-based eGFR (difference: 0.06 mL × min(-1) × 1.73 m(-2); 95% CI: 0.01, 0.12 mL · min(-1) · 1.73 m(-2) per gram of protein intake). This association was mainly driven by vegetable protein intake (0.22 mL × min(-1) × 1.73 m(-2); 95% CI: 0.10, 0.35 mL · min(-1) · 1.73 m(-2) per gram of vegetable protein intake). These associations were not explained by protein intake in early childhood. First-trimester maternal protein intake was not significantly associated with childhood kidney volume, cystatin C-based eGFR, or the risk of microalbuminuria. Our findings suggest that higher total and vegetable, but not animal, maternal protein intake during the first trimester of pregnancy is associated with a higher eGFR in childhood. Further follow-up studies are needed to investigate whether maternal protein intake in early pregnancy also affects the risk of kidney diseases in later life. © 2015 American Society for Nutrition.

  17. Spontaneous first trimester miscarriage rates per woman among parous women with 1 or more pregnancies of 24 weeks or more.

    Science.gov (United States)

    Cohain, Judy Slome; Buxbaum, Rina E; Mankuta, David

    2017-12-22

    The purpose of this study was to quantify spontaneous first trimester miscarriage rates per woman among parous women. A vast amount of data has accumulated regarding miscarriage rates per recognized pregnancy as well as about recurrent miscarriage. This is the second study of miscarriage rates per woman in a parous population and the first study of recurrent and non-recurrent, spontaneous first trimester miscarriage rates per woman in a large parous population. Extraction of the following variables from all delivery room admissions from both Hadassah Medical Centers in Jerusalem Israel, 2004-2014: # of first trimester spontaneous miscarriages, # live births; # living children; age on admission, pre-pregnancy height and weight, any smoking this pregnancy, any alcohol or drug abuse this pregnancy, blood type, history of ectopic pregnancy, history of cesarean surgery (CS) and use of any fertility treatment(s). Among 53,479 different women admitted to labor and delivery ward, 43% of women reported having had 1 or more first trimester spontaneous miscarriages; 27% reported having had one, 10% two, 4% three, 1.3% four, 0.6% five and 0.05% reported having 6-16 spontaneous first trimester miscarriages. 18.5% had one or more first trimester miscarriages before their first live birth. Eighty-one percent of women with 11 or more living children experienced one or more first trimester miscarriages. First trimester miscarriage rates rose with increasing age, increasing parity, after previous ectopic pregnancy, after previous cesarean surgery, with any smoking during pregnancy and pre-pregnancy BMI ≥30. Miscarriages are common among parous women; 43% of parous women report having experienced one or more first trimester spontaneous miscarriages, rising to 81% among women with 11 or more living children. One in every 17 parous women have three or more miscarriages. Depending on her health, nutrition and lifestyle choices, even a 39 year old parous woman with a history of 3 or

  18. Flow Analysis and Sorting of Plant Chromosomes

    Czech Academy of Sciences Publication Activity Database

    Vrána, Jan; Cápal, Petr; Šimková, Hana; Karafiátová, Miroslava; Čížková, Jana; Doležel, Jaroslav

    2016-01-01

    Roč. 78, Oct 10 (2016), 5.3.1-5.3.43 ISSN 1934-9300 R&D Projects: GA MŠk(CZ) LO1204 Institutional support: RVO:61389030 Keywords : cell cycle synchronization * chromosome genomics * chromosome isolation Subject RIV: EB - Genetics ; Molecular Biology

  19. Chromosome studies in Cashew ( Anacardium occidentale L ...

    African Journals Online (AJOL)

    Despite the increased cultivation of cashew as a commodity crop in sub-Sahara Africa, Asia and South America there are few chromosome studies on it. The present study investigates number, structure and behavior of chromosome in cashew populations growing in Nigeria. Cytological examination of these populations ...

  20. The Barley Chromosome 5 Linkage Map

    DEFF Research Database (Denmark)

    Jensen, J.; Jørgensen, Jørgen Helms

    1975-01-01

    The literature is surveyed for data on recombination between loci on chromosome 5 of barley; 13 loci fall into the category “mapped” loci, more than 20 into the category “associated” loci and nine into the category “loci once suggested to be on chromosome 5”. A procedure was developed...

  1. Statistics for X-chromosome associations.

    Science.gov (United States)

    Özbek, Umut; Lin, Hui-Min; Lin, Yan; Weeks, Daniel E; Chen, Wei; Shaffer, John R; Purcell, Shaun M; Feingold, Eleanor

    2018-06-13

    In a genome-wide association study (GWAS), association between genotype and phenotype at autosomal loci is generally tested by regression models. However, X-chromosome data are often excluded from published analyses of autosomes because of the difference between males and females in number of X chromosomes. Failure to analyze X-chromosome data at all is obviously less than ideal, and can lead to missed discoveries. Even when X-chromosome data are included, they are often analyzed with suboptimal statistics. Several mathematically sensible statistics for X-chromosome association have been proposed. The optimality of these statistics, however, is based on very specific simple genetic models. In addition, while previous simulation studies of these statistics have been informative, they have focused on single-marker tests and have not considered the types of error that occur even under the null hypothesis when the entire X chromosome is scanned. In this study, we comprehensively tested several X-chromosome association statistics using simulation studies that include the entire chromosome. We also considered a wide range of trait models for sex differences and phenotypic effects of X inactivation. We found that models that do not incorporate a sex effect can have large type I error in some cases. We also found that many of the best statistics perform well even when there are modest deviations, such as trait variance differences between the sexes or small sex differences in allele frequencies, from assumptions. © 2018 WILEY PERIODICALS, INC.

  2. Cytometric analysis of irradiation damaged chromosomes

    International Nuclear Information System (INIS)

    Wilder, M.E.; Raju, M.R.

    1982-01-01

    Irradiation of cells in interphase results in dose-dependent damage to DNA which is discernable by flow-cytometric analysis of chromosomes. The quantity (and possibly the quality) of chromosomal changes is different in survival-matched doses of x and α irradiation. It may, therefore, be possible to use these methods for analysis of dose and type of exposure in unknown cases

  3. X-chromosome inactivation and escape

    Indian Academy of Sciences (India)

    2015-11-06

    Nov 6, 2015 ... tion and cancer in mice after a long period of time (Yildirim et al. 2013). ... chromosome of man has a short pairing seg- ment, that is not normally ..... Lyon M. F. 1988 The William Allan memorial award address: X-chromosome ...

  4. Chromosomal evolution and phylogenetic analyses in Tayassu ...

    Indian Academy of Sciences (India)

    Chromosome preparation and karyotype description. The material analysed consists of chromosome preparations of the tayassuid species T. pecari (three individuals) and. P. tajacu (four individuals) and were made from short-term lymphocyte cultures of whole blood samples using standard protocols (Chaves et al. 2002).

  5. AFM image of an entire polygene chromosome

    International Nuclear Information System (INIS)

    Li Minqian; Takeuchi; Ikai, A.

    1994-01-01

    The author present AFM images of an entire polygene chromosome of Drosophila for the first time. Comparing with conventional optical microscope, the AFM image of the polygene chromosomes provides much higher resolution and 3-D measurement capability which will lead to finer scale gene mapping and identification

  6. A sexy spin on nonrandom chromosome segregation.

    Science.gov (United States)

    Charville, Gregory W; Rando, Thomas A

    2013-06-06

    Nonrandom chromosome segregation is an intriguing phenomenon linked to certain asymmetric stem cell divisions. In a recent report in Nature, Yadlapalli and Yamashita (2013) observe nonrandom segregation of X and Y chromosomes in Drosophila germline stem cells and shed light on the complex mechanisms of this fascinating process. Copyright © 2013 Elsevier Inc. All rights reserved.

  7. Characterizing the Final Steps of Chromosomal Replication at the Single-molecule Level in the Model System Escherichia coli

    KAUST Repository

    Elshenawy, Mohamed

    2015-01-01

    In the circular Escherichia coli chromosome, two replisomes are assembled at the unique origin of replication and drive DNA synthesis in opposite directions until they meet in the terminus region across from the origin. Despite the difference

  8. Urinary tract infection in pregnant population, which empirical antimicrobial agent should be specified in each of the three trimesters?

    Science.gov (United States)

    Unlu, Bekir Serdar; Yildiz, Yunus; Keles, Ibrahim; Kaba, Metin; Kara, Halil; Tasin, Cuma; Erkilinc, Selcuk; Yildirim, Gulcin

    2014-05-01

    We aimed to investigate the bacterial profile and the adequacy of antimicrobial treatment in pregnant women with urinary tract infection. This retrospective observational study was conducted with 753 pregnant women who needed hospitalization because of UTI in each of the three trimesters. Midstream urine culture and antimicrobial susceptibility tests were evaluated. E. Coli was the most frequently isolated bacterial agent (82.2%), followed by Klebsiella spp. (11.2%). In each of the three trimesters, E. Coli remained the most frequently isolated bacterium (86%, 82.2%, 79.5%, respectively), followed by Klebsiella spp. (9%, 11.6%, 12.2%, respectively). Enterococcus spp. were isolated as a third microbial agent, with 43 patients (5.7%) in the three trimesters. The bacteria were found to be highly sensitive to fosfomycin, with 98-99% sensitivity for E.Coli and 88-89% for Klebsiella spp. and for Enterococcus spp. 93-100% nitrofurantoin sensitivity for each of the three trimesters. We demonstrated that E. Coli and Klebsiella spp. are the most common bacterial agents isolated from urine culture of pregnant women with UTI in each of the three trimesters. We consider fosfomycin to be the most adequate first-line treatment regimen due to high sensitivity to the drug, ease of use and safety for use in pregnancy

  9. Changes of intraocular pressure in different trimesters of pregnancy among Syrian refugees in Turkey: A cross-sectional study.

    Science.gov (United States)

    Tolunay, Harun Egemen; Özcan, Sait Coşkun; Şükür, Yavuz Emre; Özarslan Özcan, Deniz; Adıbelli, Fatih Mehmet; Hilali, Neşe Gül

    2016-06-01

    To evaluate the physiologic changes in intraocular pressure associated with pregnancy in healthy Syrian refugee women in Turkey. In this cross-sectional study, intraocular pressures were measured using a Goldmann tonometer in 235 patients in the first, second, and third trimester of pregnancy and puerperium among Syrian refugees in Turkey. Mean intraocular pressures values of the right eye were 15.5±2.5 mmHg, 14.4±1.4 mmHg, 13.9±1.6 and 14.7±1.9 mmHg in the three trimesters and puerperium, respectively. Mean intraocular pressures values of the left eye were 15.3±1.6 mmHg, 14.3±1.4 mmHg, 13.9±1.6 and 15.3±2.2 mmHg in the three trimesters and puerperium, respectively. The mean intraocular pressures values measured from both eyes were significantly higher in first trimester and puerperal period than in the third trimester (p<0.001). Changes in the intraocular pressure in pregnancy are common and temporary. This study shows the baseline changes in the intraocular pressure during pregnancy in healthy women. Therefore, we cannot extrapolate the results to the whole eye. A decrease in intraocular pressures was shown in healthy pregnant women.

  10. T CD3+CD8+ Lymphocytes Are More Susceptible for Apoptosis in the First Trimester of Normal Human Pregnancy

    Directory of Open Access Journals (Sweden)

    Dorota Darmochwal-Kolarz

    2014-01-01

    Full Text Available Aims. Normal human pregnancy is a complex process of many immunoregulatory mechanisms which protect fetus from the activation of the maternal immune system. The aim of the study was to investigate the apoptosis of lymphocytes in peripheral blood of normal pregnant patients and healthy nonpregnant women. Methods. Sixty pregnant women and 17 nonpregnant women were included in the study. Lymphocytes were isolated and labeled with anti-CD3, anti-CD4, and anti-CD8 monoclonal antibodies. Apoptosis was detected by CMXRos staining and analyzed using the flow cytometric method. Results. We found significantly higher apoptosis of total lymphocytes in peripheral blood of pregnant patients when compared to healthy nonpregnant women. The percentage of apoptotic T CD3+CD8+ cells in the first trimester was significantly higher when compared to the third trimester of normal pregnancy. The ratio of T CD3+CD4+ : T CD3+CD8+ apoptotic lymphocytes was significantly lower in the first trimester when compared to other trimesters of pregnancy and to both of the phases of the menstrual cycle. Conclusions. The higher apoptosis of T CD3+CD8+ lymphocytes and the lower ratio of T CD3+CD4+ : T CD3+CD8+ apoptotic cells in the first trimester of normal pregnancy may suggest a higher susceptibility of T CD3+CD8+ cells for apoptosis as a protective mechanism at the early stage of pregnancy.

  11. Temporal genomic evolution of bird sex chromosomes

    DEFF Research Database (Denmark)

    Wang, Zongji; Zhang, Jilin; Yang, Wei

    2014-01-01

    BACKGROUND: Sex chromosomes exhibit many unusual patterns in sequence and gene expression relative to autosomes. Birds have evolved a female heterogametic sex system (male ZZ, female ZW), through stepwise suppression of recombination between chrZ and chrW. To address the broad patterns and complex...... driving forces of Z chromosome evolution, we analyze here 45 newly available bird genomes and four species' transcriptomes, over their course of recombination loss between the sex chromosomes. RESULTS: We show Z chromosomes in general have a significantly higher substitution rate in introns and synonymous...... ('fast-Z' evolution). And species with a lower level of intronic heterozygosities tend to evolve even faster on the Z chromosome. Further analysis of fast-evolving genes' enriched functional categories and sex-biased expression patterns support that, fast-Z evolution in birds is mainly driven by genetic...

  12. Chromosome behaviour in Rhoeo spathacea var. variegata.

    Science.gov (United States)

    Lin, Y J

    1980-01-01

    Rhoeo spathacea var. variegata is unusual in that its twelve chromosomes are arranged in a ring at meiosis. The order of the chromosomes has been established, and each chromosome arm has been designated a letter in accordance with the segmental interchange theory. Chromosomes are often irregularly orientated at metaphase I. Chromosomes at anaphase I are generally distributed equally (6-6, 58.75%) although not necessarily balanced. Due to adjacent distribution, 7-5 distribution at anaphase I was frequently observed (24.17%), and due to lagging, 6-1-5 and 5-2-5 distributions were also observed (10.83% and 3.33% respectively). Three types of abnormal distribution, 8-4, 7-1-4 and 6-2-4 were observed very infrequently (2.92% total), and their possible origins are discussed. Irregularities, such as adjacent distribution and lagging, undoubtedly reduce the fertility of the plant because of the resulting unbalanced gametes.

  13. Chromosome reduction in Eleocharis maculosa (Cyperaceae).

    Science.gov (United States)

    da Silva, C R M; González-Elizondo, M S; Laforga Vanzela, A L

    2008-01-01

    Chromosome numbers in Cyperaceae lower than the typical basic number x = 5 have been described for only three species: Rhynchospora tenuis (n = 2), Fimbristylis umbellaris (n = 3) and Eleocharis subarticulata (n = 3). Eleocharis maculosa is recorded here as the fourth species of Cyperaceae that has a chromosome number lower than 2n = 10, with 2n = 8, 7 and 6. The karyotype differentiation in E. maculosa was studied using conventional staining (mitosis and meiosis), FISH with 45S and 5S rDNA and telomere probes. The results allow us to determine which chromosomes of the chromosome race with 2n = 10 fused to form the remaining reduced numbers, as well as to understand how the symploidy and translocation mechanisms were important in karyotype differentiation and the formation of chromosome races in Eleocharis. Copyright 2008 S. Karger AG, Basel.

  14. Energy Landscapes of Folding Chromosomes

    Science.gov (United States)

    Zhang, Bin

    The genome, the blueprint of life, contains nearly all the information needed to build and maintain an entire organism. A comprehensive understanding of the genome is of paramount interest to human health and will advance progress in many areas, including life sciences, medicine, and biotechnology. The overarching goal of my research is to understand the structure-dynamics-function relationships of the human genome. In this talk, I will be presenting our efforts in moving towards that goal, with a particular emphasis on studying the three-dimensional organization, the structure of the genome with multi-scale approaches. Specifically, I will discuss the reconstruction of genome structures at both interphase and metaphase by making use of data from chromosome conformation capture experiments. Computationally modeling of chromatin fiber at atomistic level from first principles will also be presented as our effort for studying the genome structure from bottom up.

  15. The Y chromosome of the Atelidae family (Platyrrhini): study by chromosome microdissection.

    Science.gov (United States)

    Gifalli-Iughetti, C; Koiffmann, C P

    2009-01-01

    In order to study the intergeneric variability of the Y chromosome, we describe the hybridization of the Y chromosome of Brachytelesarachnoides, obtained by microdissection, to metaphases of Atelesbelzebuthmarginatus, Lagothrixlagothricha, and Alouatta male specimens. Brachytelesarachnoides (Atelinae) has 62 chromosomes and a very small Y chromosome. Our results showed that the Brachytelesarachnoides Y chromosome probe hybridized to Lagothrixlagothricha metaphases yielding one hybridization signal on only the tiny Y chromosome, and when hybridized with Atelesbelzebuthmarginatus metaphases it yielded one hybridization signal on two thirds of the small acrocentric Y chromosome. However, no hybridization signal was observed in Alouatta metaphases (subfamily Alouattinae), a closely related genus in the Atelidae family. Furthermore, our data support a close phylogenetic relationship among Brachyteles, Ateles, and Lagothrix and their placement in the Atelinae subfamily, but exclude Alouatta from this group indicating its placement as basal to this group. Copyright 2009 S. Karger AG, Basel.

  16. Y-chromosome evolution: emerging insights into processes of Y-chromosome degeneration.

    Science.gov (United States)

    Bachtrog, Doris

    2013-02-01

    The human Y chromosome is intriguing not only because it harbours the master-switch gene that determines gender but also because of its unusual evolutionary history. The Y chromosome evolved from an autosome, and its evolution has been characterized by massive gene decay. Recent whole-genome and transcriptome analyses of Y chromosomes in humans and other primates, in Drosophila species and in plants have shed light on the current gene content of the Y chromosome, its origins and its long-term fate. Furthermore, comparative analysis of young and old Y chromosomes has given further insights into the evolutionary and molecular forces triggering Y-chromosome degeneration and into the evolutionary destiny of the Y chromosome.

  17. Two Y genes can replace the entire Y chromosome for assisted reproduction in the mouse.

    Science.gov (United States)

    Yamauchi, Yasuhiro; Riel, Jonathan M; Stoytcheva, Zoia; Ward, Monika A

    2014-01-03

    The Y chromosome is thought to be important for male reproduction. We have previously shown that, with the use of assisted reproduction, live offspring can be obtained from mice lacking the entire Y chromosome long arm. Here, we demonstrate that live mouse progeny can also be generated by using germ cells from males with the Y chromosome contribution limited to only two genes, the testis determinant factor Sry and the spermatogonial proliferation factor Eif2s3y. Sry is believed to function primarily in sex determination during fetal life. Eif2s3y may be the only Y chromosome gene required to drive mouse spermatogenesis, allowing formation of haploid germ cells that are functional in assisted reproduction. Our findings are relevant, but not directly translatable, to human male infertility cases.

  18. 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.

  19. TRF2 Protein Interacts with Core Histones to Stabilize Chromosome Ends*

    Science.gov (United States)

    Izumi, Takashi; Shimizu, Shigeomi

    2016-01-01

    Mammalian chromosome ends are protected by a specialized nucleoprotein complex called telomeres. Both shelterin, a telomere-specific multi-protein complex, and higher order telomeric chromatin structures combine to stabilize the chromosome ends. Here, we showed that TRF2, a component of shelterin, binds to core histones to protect chromosome ends from inappropriate DNA damage response and loss of telomeric DNA. The N-terminal Gly/Arg-rich domain (GAR domain) of TRF2 directly binds to the globular domain of core histones. The conserved arginine residues in the GAR domain of TRF2 are required for this interaction. A TRF2 mutant with these arginine residues substituted by alanine lost the ability to protect telomeres and induced rapid telomere shortening caused by the cleavage of a loop structure of the telomeric chromatin. These findings showed a previously unnoticed interaction between the shelterin complex and nucleosomal histones to stabilize the chromosome ends. PMID:27514743

  20. Chromatid Painting for Chromosomal Inversion Detection, Phase II

    Data.gov (United States)

    National Aeronautics and Space Administration — We propose the continued development of a novel approach to the detection of chromosomal inversions. Transmissible chromosome aberrations (translocations and...

  1. Chromatid Painting for Chromosomal Inversion Detection, Phase I

    Data.gov (United States)

    National Aeronautics and Space Administration — We propose a novel approach to the detection of chromosomal inversions. Transmissible chromosome aberrations (translocations and inversions) have profound genetic...

  2. Automatic Metaphase Finding by Inter-Chromosome Extrema Profile Analysis

    National Research Council Canada - National Science Library

    Vega-Alvarado, Leticia

    2001-01-01

    ...-level inter-chromosome coarseness features in microscopic images of metaphase spreads, and allows to quantity the texture of the cytological objects analysing the intensity profile between chromosome...

  3. Label Free Chromosome Translocation Detection with Silicon nanowires

    DEFF Research Database (Denmark)

    Kwasny, Dorota; Andersen, Karsten Brandt; Frøhling, Kasper Bayer

    HROMOSOME translocation, which is a rearrangement of arms between two chromosomes, is a major group of chromosome abnormalities leading to cancer. As a result, two derivative chromosomes with sequences coming from both chromosomes are formed. The current translocation detection method is a Fluore......HROMOSOME translocation, which is a rearrangement of arms between two chromosomes, is a major group of chromosome abnormalities leading to cancer. As a result, two derivative chromosomes with sequences coming from both chromosomes are formed. The current translocation detection method...

  4. Combined First-Trimester Screening in Northern Finland: Experiences of the First Ten Years

    Directory of Open Access Journals (Sweden)

    Merilainen Anna

    2014-01-01

    Full Text Available Objective To evaluate the efficacy of first trimester combined screening for Down's syndrome in Northern Finland during the first 10 years of practice. Methods During 1 January 2002 to 31 December 2011, 47,896 women participated voluntarily in combined screening during first trimester. The risk cutoff was 1:250. The study period was divided into two time periods; 2002-2006 and 2007-2011. Results During the first half of the study period, the detection rate (DR was 77.3% with a 4.9% false-positive rate (FPR. During the latter half, the DR was 77.1% with a 2.8% FPR. Conclusions An important issue is the number of invasive procedures needed to detect one case of Down's syndrome. The screening performance improved markedly in the latter five years period since the FPR lowered from 4.9% to 2.8% and the number of invasive procedures needed to detect one case of Down's syndrome lowered from 15 to 11.

  5. Synthetic Receptors Induce Anti Angiogenic and Stress Signaling on Human First Trimester Cytotrophoblast Cells

    Directory of Open Access Journals (Sweden)

    Ahmed F. Pantho

    2017-05-01

    Full Text Available The cytotrophoblast (CTB cells of the human placenta have membrane receptors that bind certain cardiotonic steroids (CTS found in blood plasma. One of these, marinobufagenin, is a key factor in the etiology of preeclampsia. Herein, we used synthetic receptors (SR to study their effectiveness on the angiogenic profile of human first trimester CTB cells. The humanextravillous CTB cells (Sw.71 used in this study were derived from first trimester chorionic villus tissue. Culture media of CTB cells treated with ≥1 nM SR level revealed sFlt-1 (Soluble fms-like tyrosine kinase-1 was significantly increased while VEGF (vascular endothelial growth factor was significantly decreased in the culture media (* p < 0.05 for each The AT2 receptor (Angiotensin II receptor type 2 expression was significantly upregulated in ≥1 nM SR-treated CTB cells as compared to basal; however, the AT1 (Angiotensin II receptor, type 1 and VEGFR-1 (vascular endothelial growth factor receptor 1 receptor expression was significantly downregulated (* p < 0.05 for each. Our results show that the anti-proliferative and anti-angiogenic effects of SR on CTB cells are similar to the effects of CTS. The observed anti angiogenic activity of SR on CTB cells demonstrates that the functionalized-urea/thiourea molecules may be useful as potent inhibitors to prevent CTS-induced impairment of CTB cells.

  6. First-trimester visualization of the fourth ventricle in fetuses with and without spina bifida.

    Science.gov (United States)

    Solt, Ido; Acuna, Joann G; Adeniji, Beni A; Mirocha, James; Kim, Matthew J; Rotmensch, Siegfried

    2011-12-01

    The purpose of this study was to examine the efficacy of nonvisualization of the fourth ventricle for first-trimester detection of spina bifida. A total of 250 digitally stored sonographic examinations at gestational ages of 11 weeks to 13 weeks 6 days (245 normal and 5 randomly interspersed spina bifida cases) were retrospectively analyzed by 4 blinded reviewers for the presence or absence of the fourth ventricle followed by an anteroposterior ventricular dimension measurement. The ventricle size was related to the crown-rump length and gestational age by linear regression analysis and Pearson correlation. The fourth ventricle was identified in 971 of 1000 image readings (97.1%). False-negative and false-positive readings occurred in 11 of 20 (55.0%) and 20 of 980 (2.0%) cases, respectively (sensitivity, 0.45; specificity, 0.98.). False-negative and false-positive readings were evenly distributed throughout the gestational age range. When the ventricular size was measurable, its mean dimensions increased linearly with gestational age and were below the fifth percentile in 10 of 245 (4.0%) normal and 0 of 4 spina bifida cases, respectively. Intraclass correlation coefficient estimates were calculated based on the 2-way analysis of variance model and found to be 0.30 for a single rater and 0.64 for the mean of 4 raters. Nonvisualization of the first-trimester fourth ventricle is a less robust screening parameter for spina bifida than previously published.

  7. Determinants of Antenatal Healthcare Utilisation by Pregnant Women in Third Trimester in Peri-Urban Ghana

    Directory of Open Access Journals (Sweden)

    Jones Asafo Akowuah

    2018-01-01

    Full Text Available Access to quality healthcare still remains a major challenge in the efforts at reversing maternal morbidity and mortality. Despite the availability of established maternal health interventions, the health of the expectant mother and the unborn child remains poor due to low utilisation of interventions. The study examined the socioeconomic determinants of antenatal care utilisation in peri-urban Ghana using pregnant women who are in their third trimester. Two-stage sampling technique was used to sample 200 pregnant women who were in their third trimester from the District Health Information Management System software. Well-structured questionnaire was the instrument used to collect data from respondents. Descriptive statistics and inferential statistics including binary logit regression model were used to analyse the data with the help of SPSS and STATA software. The results showed varying utilisation levels of ANC. From the regression result, age, household size, and occupational status were identified as the important socioeconomic determinants of antenatal care utilisation among the respondents. The important system factors which influence antenatal care utilisation by the respondents are distance to ANC, quality of service, and service satisfaction. The study concludes that socioeconomic and health system factors are important determinants of antenatal care utilisation. Stepping up of interventions aimed at improving the socioeconomic status and addressing health system and proximity challenges could be helpful in improving antenatal care utilisation by pregnant women in Ghana.

  8. First-trimester antihistamine exposure and risk of spontaneous abortion or preterm birth.

    Science.gov (United States)

    Aldridge, Tiara D; Hartmann, Katherine E; Michels, Kara A; Velez Edwards, Digna R

    2014-10-01

    We tested whether antihistamine exposure during early pregnancy is associated with spontaneous abortion (SAB) or preterm birth (PTB). Women were enrolled in Right from the Start (2004-2010), a prospective pregnancy cohort. Data about first-trimester antihistamine use were obtained from screening and first-trimester interviews. Self-reported outcomes included SAB and PTB and were verified by medical records. Cox proportional hazards models were used to test for an association between antihistamine use and each outcome, both performed adjusting for confounders. Among the 2685 pregnancies analyzed, 14% (n = 377) reported use of antihistamines. Among antihistamine users, 12% (n = 44) experienced SABs, and 6% (n = 21) had PTBs. Antihistamine exposure was not associated with SAB (adjusted hazard ratio [aHR] = 0.88, 95% confidence interval [CI] 0.64, 1.21) or PTB, which was modified by maternal race (aHR = 1.03, 95%CI 0.61, 1.72 among White women and aHR = 0.43, 95%CI 0.14, 1.34 among Black women). Despite the biologic plausibility that antihistamine use may influence pregnancy outcomes, we did not detect evidence of an association with SAB or PTB. These data demonstrate the utility of large prospective cohorts for evaluating drug safety in pregnancy when concerns are raised from animal models. Copyright © 2014 John Wiley & Sons, Ltd.

  9. A Case of Idiopathic Acute Pancreatitis in the First Trimester of Pregnancy

    Directory of Open Access Journals (Sweden)

    Tomomi Hara

    2015-01-01

    Full Text Available Acute pancreatitis is rare in pregnancy, with an estimated incidence of approximately 1 in 1000 to 1 in 10,000 pregnancies. Acute pancreatitis in pregnancy usually occurs in the third trimester. Here, we report a case of acute pancreatitis in the first trimester. A 36-year-old primigravida at 11 weeks of gestation complained of severe lower abdominal pain. The pain gradually worsened and migrated toward the epigastric region. She had no history of chronic alcoholism. Blood investigations showed elevated level of C-reactive protein (9.58 mg/dL, pancreatic amylase (170 IU/L, and lipase (332 IU/L. There was no gallstone and no abnormality in the pancreatic and biliary ducts on ultrasonography. Antinuclear antibody and IgG4 were negative and no evidence of hyperlipidemia or diabetes was found. There was also no evidence of viral infection. On the third day of hospitalization, she was diagnosed with severe acute pancreatitis on magnetic resonance imaging. Medical interventions were initiated with nafamostat mesilate and ulinastatin, and parenteral nutrition was administered through a central venous catheter. On the eighth day of hospitalization, her condition gradually improved with a decreased level of pancreatic amylase and the pain subsided. After conservative management, she did not have any recurrence during her pregnancy.

  10. Sildenafil Prevents Apoptosis of Human First-Trimester Trophoblast Cells Exposed to Oxidative Stress

    Science.gov (United States)

    Bolnick, Jay M.; Kilburn, Brian A.; Bolnick, Alan D.; Diamond, Michael P.; Singh, Manvinder; Hertz, Michael; Dai, Jing

    2015-01-01

    Human first-trimester trophoblast cells proliferate at low O2, but survival is compromised by oxidative stress, leading to uteroplacental insufficiency. The vasoactive drug, sildenafil citrate (Viagra, Sigma, St Louis, Missouri), has proven useful in reducing adverse pregnancy outcomes. An important biological function of this pharmaceutical is its action as an inhibitor of cyclic guanosine monophosphate (cGMP) phosphodiesterase type 5 activity, which suggests that it could have beneficial effects on trophoblast survival. To investigate whether sildenafil can prevent trophoblast cell death, human first-trimester villous explants and the HTR-8/SVneo cytotrophoblast cell line were exposed to hypoxia and reoxygenation (H/R) to generate oxidative stress, which induces apoptosis. Apoptosis was optimally inhibited during H/R by 350 ng/mL sildenafil. Sildenafil-mediated survival was reversed by l-NG-nitro-l-arginine methyl ester hydrochloride or cGMP antagonist, indicating a dependence on both nitric oxide (NO) and cGMP. Indeed, either a cGMP agonist or an NO generator was cytoprotective independent of sildenafil. These findings suggest a novel intervention route for patients with recurrent pregnancy loss or obstetrical placental disorders. PMID:25431453

  11. Regional apparent diffusion coefficient values in 3rd trimester fetal brain

    International Nuclear Information System (INIS)

    Hoffmann, Chen; Weisz, Boaz; Lipitz, Shlomo; Katorza, Eldad; Yaniv, Gal; Bergman, Dafi; Biegon, Anat

    2014-01-01

    Apparent diffusion coefficient (ADC) values in the developing fetus can be used in the diagnosis and prognosis of prenatal brain pathologies. To this end, we measured regional ADC in a relatively large cohort of normal fetal brains in utero. Diffusion-weighted imaging (DWI) was performed in 48 non-sedated 3rd trimester fetuses with normal structural MR imaging results. ADC was measured in white matter (frontal, parietal, temporal, and occipital lobes), basal ganglia, thalamus, pons, and cerebellum. Regional ADC values were compared by one-way ANOVA with gestational age as covariate. Regression analysis was used to examine gestational age-related changes in regional ADC. Four other cases of CMV infection were also examined. Median gestational age was 32 weeks (range, 26-33 weeks). There was a highly significant effect of region on ADC, whereby ADC values were highest in white matter, with significantly lower values in basal ganglia and cerebellum and the lowest values in thalamus and pons. ADC did not significantly change with gestational age in any of the regions tested. In the four cases with fetal CMV infection, ADC value was associated with a global decrease. ADC values in normal fetal brain are relatively stable during the third trimester, show consistent regional variation, and can make an important contribution to the early diagnosis and possibly prognosis of fetal brain pathologies. (orig.)

  12. Regional apparent diffusion coefficient values in 3rd trimester fetal brain

    Energy Technology Data Exchange (ETDEWEB)

    Hoffmann, Chen [Tel Aviv University, Department of Radiology, Sheba Medical Center, Tel Hashomer (affiliated to the Sackler School of Medicine), Tel Aviv (Israel); Sheba Medical Center, Diagnostic Imaging, 52621, Tel Hashomer (Israel); Weisz, Boaz; Lipitz, Shlomo; Katorza, Eldad [Tel Aviv University, Department of Obstetrics and Gynecology, Sheba Medical Center, Tel Hashomer (affiliated to the Sackler School of Medicine), Tel Aviv (Israel); Yaniv, Gal; Bergman, Dafi [Tel Aviv University, Department of Radiology, Sheba Medical Center, Tel Hashomer (affiliated to the Sackler School of Medicine), Tel Aviv (Israel); Biegon, Anat [Stony Brook University School of Medicine, Department of Neurology, Stony Brook, NY (United States)

    2014-07-15

    Apparent diffusion coefficient (ADC) values in the developing fetus can be used in the diagnosis and prognosis of prenatal brain pathologies. To this end, we measured regional ADC in a relatively large cohort of normal fetal brains in utero. Diffusion-weighted imaging (DWI) was performed in 48 non-sedated 3rd trimester fetuses with normal structural MR imaging results. ADC was measured in white matter (frontal, parietal, temporal, and occipital lobes), basal ganglia, thalamus, pons, and cerebellum. Regional ADC values were compared by one-way ANOVA with gestational age as covariate. Regression analysis was used to examine gestational age-related changes in regional ADC. Four other cases of CMV infection were also examined. Median gestational age was 32 weeks (range, 26-33 weeks). There was a highly significant effect of region on ADC, whereby ADC values were highest in white matter, with significantly lower values in basal ganglia and cerebellum and the lowest values in thalamus and pons. ADC did not significantly change with gestational age in any of the regions tested. In the four cases with fetal CMV infection, ADC value was associated with a global decrease. ADC values in normal fetal brain are relatively stable during the third trimester, show consistent regional variation, and can make an important contribution to the early diagnosis and possibly prognosis of fetal brain pathologies. (orig.)

  13. Iodine nutritional status of women in their first trimester of pregnancy in Catalonia.

    Science.gov (United States)

    Torres, Maria Teresa; Francés, Lidia; Vila, Lluis; Manresa, Josep María; Falguera, Gemma; Prieto, Gemma; Casamitjana, Roser; Toran, Pere

    2017-07-26

    Sufficient iodine intake is needed during pregnancy to ensure proper fetal development. The iodine levels of women in their first trimester of pregnancy in Catalonia are currently unknown. This data would help to determine whether our public health services should establish recommendations or interventions in this line. The aim of this study was to investigate the iodine nutritional status, prevalence of urinary iodine pregnancy in our setting. Cross-sectional study. Data were collected during 2008-2009 from women in their first trimester at the primary care centers of the province of Barcelona (Spain). Pregnant women included in the study completed a questionnaire on eating habits and underwent urinary iodine concentration (UIC) assessment. Nine hundred forty five women completed the dietary questionnaire and urinary iodine testing. Median UIC was 172 μg/L, with 407 participants (43.1%) showing levels 2 glasses, OR = 0.593 95% CI (0.37-0.95); iodized salt consumption, OR = 0.678 95% CI (0.51-0. 90); and use of iodine supplementation, OR = 0.410 95% CI (0.31-0.54), protected against the risk of UIC nutritional status according to the criteria established by the WHO and ICCIDD. The risk of urinary iodine <150 μg/L decreased with simultaneous consumption of milk and iodized salt, similar to the decrease seen with iodine supplementation.

  14. Investigation of serum leptin levels in pregnant women during various trimesters and their neonates

    International Nuclear Information System (INIS)

    Gao Juxing; Zhang Jiyun

    2003-01-01

    Objective: To investigate the variations of serum leptin levels in pregnant women of various trimesters and their neonates as well as the correlativity in-between. Methods: Serum leptin levels in 300 women at pregestation during the three trimesters and the umbilical blood leptin levels in their neonates were measured with RIA. Results: Serum leptin levels in pregnant women rose significantly only from midgestation with a peak at partum (p < 0.05 or p < 0.01 vs pregestation). The leptin levels in neonates were almost the same as those of women of pregestation. The maternal leptin levels were positively correlated to body weight, body weight-index, abdominal perimeter, height of fundus of uterus, diastolic and systolic pressure. The leptin levels in neonates were positively correlated to the birth weight, but not correlated to maternal leptin levels. Conclusion: Leptin in neonates comes from neonates themselves, and its concentrations are determined by the degree of accumulation of body adipose tissue. Measurement of blood leptin concentrations in pregnant women during pregnancy has little meaning for accessing the body weight of fetus, but it can show the degree of maternal weight-gaining and may have some value for clinical observation of the syndrome of pregnant hypertension

  15. Intrauterine hematomas in the second and third trimesters associated with adverse pregnancy outcomes: a retrospective study.

    Science.gov (United States)

    Ji, Wanqing; Li, Weidong; Mei, Shanshan; He, Ping

    2017-09-01

    To carry out a retrospective study of the clinical features of patients with intrauterine hematoma in the second and third trimesters, and discuss the risk factors for poor pregnancy outcomes. A total of 398 patients who underwent routine examination in our hospital from January 2011 to December 2015 were classified into normal pregnancy (NP) group (N = 265) and adverse pregnancy (AP) group (N = 133), according to their pregnancy outcomes. Maternal clinical demographics, gestational age, location of hematoma, volume of hematoma, and accompanying contraction and vaginal bleeding were recorded. The average age of pregnant women in the NP and AP groups was 28.25 ± 4.06 and 29.5 ± 5.06 years, respectively (p = 0.007). Gestational age at first detection of hematoma was 15.11 ± 5.13 weeks in the NP group compared with 21.22 ± 8.25 weeks in the AP group (p hematoma (54.1%) and palpable contractions (62.8%) was significantly higher than in the NP group (25.7% and 12.1%, respectively; p hematoma and incidence of vaginal bleeding were found. Intrauterine hematoma in the second and third trimesters is a sign of pathological pregnancy, resulting in adverse outcomes. Maternal age, gestational age at first diagnosis, location of hematoma and accompanying contraction are risk factors for poor pregnancy outcomes.

  16. Prevalence of Group B Streptococcus Vaginal Colonization in The Third Trimester of Pregnancy.

    Directory of Open Access Journals (Sweden)

    MR Nazer

    2011-03-01

    Full Text Available Introduction: Group B Strepococcus(GBS is one of the most important causes of neonatal infections including septicemia and meningitis. It also plays an important role in maternal infections such as chorioamnionitis, pyelonephritis, metritis and post partum infection. The present study was carried out to find the prevalence of GBS in pregnant women with 28 to 38 weeks gestational age. Methods: In this study, 100 pregnant women referring to the obstetrical clinic of Asalian Hospital in Khorramabad city in the third trimester of pregnancy (after explaining the study, getting informed consent and demographic informations were tested for GBS by taking a vaginal sample. The sample was taken by sterile cotton swab. The swabs were placed in transport media, transported to the central Lab, and were inoculated in blood agar. Then all samples were analyzed for the presence of GBS. Results: In this study, the prevalence of positive vaginal GBS culture in pregnant women was 14% (CI: 7.2-20.8%. No significant correlation were found between this positive culture and maternal age, gestational age, abortion status, diabetes mellitus and pregnancy induced hypertension, while a significant correlation was found between positive cultures and parity. Conclusion: As the colonization rate of GBS in pregnant women of Khorramabad is high, routine culture-based screening is recommended for all pregnant women in third trimester of pregnancy.

  17. Placenta Percreta in First Trimester after Multiple Rounds of Failed Medical Management for a Missed Abortion

    Directory of Open Access Journals (Sweden)

    Jaimin Shah

    2017-01-01

    Full Text Available Background. The detection of a morbidly adherent placenta (MAP in the first trimester is rare. Risk factors such as multiparity, advanced maternal age, prior cesarean delivery, prior myomectomy, placenta previa, or previous uterine evacuation place patients at a higher risk for having abnormal placental implantation. If these patients have a first trimester missed abortion and fail medical management, it is important that providers have a heightened suspicion for a MAP. Case. A 24-year-old G4P3003 with 3 prior cesarean deliveries underwent multiple rounds of failed medical management for a missed abortion. She had a dilation and curettage that was complicated by a significant hemorrhage and ultimately required an urgent hysterectomy. Conclusion. When patients fail medical management for a missed abortion, providers need to assess the patient’s risk factors for a MAP. If risk factors are present, a series of specific evaluations should be triggered to rule out a MAP and help further guide management. Early diagnosis of a MAP allows providers to coordinate a multidisciplinary treatment approach and thoroughly counsel patients. Ensuring adequate resources and personnel at a tertiary hospital is essential to provide the highest quality of care and improve outcomes.

  18. Adverse Pregnancy Outcomes of Patients with History of First-Trimester Recurrent Spontaneous Abortion

    Directory of Open Access Journals (Sweden)

    Jing Yang

    2017-01-01

    Full Text Available Although a history of first-trimester recurrent spontaneous abortion (FRSA is regarded as a risk factor in antenatal care, the characteristic of subsequent pregnancy outcome is not clearly elucidated. Here, a retrospective analysis was performed on the clinical data of 492 singleton pregnant women. 164 of them with the history of FRSA were enrolled in study group, compared to 328 deliveries without the history of FRSA. For maternal outcomes, patients in the study group delivered earlier with mean gestational age and the incidences of cesarean section and postpartum hemorrhage were higher compared to the control group. For placental outcomes, the incidence of placenta-mediated pregnancy complications (PMPC in the study group increased in terms of late-onset preeclampsia, oligohydramnios, early-onset fetal growth restriction, and second-trimester abortion. Patients in the study group were more likely to suffer from placenta accreta, placenta increta, and placenta percreta. For perinatal outcomes, the proportion of birth defects of newborns in the study group was greater. At last, logistic regression analyses showed that the history of FRSA was an independent risk factor for cesarean section and pregnancy complications. In conclusion, women with the history of FRSA are often exposed to an elevated incidence of maternal-placental-perinatal adverse pregnancy outcomes.

  19. [Prescribed and dispensed in the third trimester of pregnancy drugs: What practices and risks?].

    Science.gov (United States)

    Parent, G; Mottet, N; Mairot, P; Baudier, F; Carel, D; Goguey, M; Riethmuller, D; Limat, S

    2016-09-01

    The aim of the study was to describe the prescribing of drugs to pregnant women during the third trimester of pregnancy. The retrospective analysis is interested by pregnant women from August 2009 to April 2011, living in Franche-Comté. The used data are recorded in the database of the French Health Insurance Service. Drugs prescribing were analyzed and classified according to three categories: drugs that are contraindicated, not recommended drugs and drugs that are used. This classification is based on two databases: the Summaries of Product Characteristics of Vidal 2010 and data from the National Security Agency of Medicines. The potential exposure of patients was pointed out. On 15,027 patients, 80% had a prescription. Six percent of prescriptions containing drugs not recommended and 1% drugs that contraindicated. Therapeutic classes identified are analgesics, anti-infective drugs and medicines supplementing with vitamins and minerals. Contraindicated drugs (10%) are NSAIDs, rubella vaccine, cyclins and ACE inhibitors and ARBs. Approximately 2.7% of women were potentially exposed to these drugs. Despite the recommendations of the ANSM, some drugs that are contraindicated are prescribed for pregnant women in their third trimester of pregnancy. In the absence of studies, the decision must be made on a case by case basis by assessing the risk-benefit ratio. Particular care is to bring about the drugs taken in self-medication. Information and advice are key steps to avoid incidents. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  20. ANALYSIS OF SERUM URIC ACID LEVELS IN EARLY SECOND TRIMESTER AS AN EARLY PREDICTOR FOR PREECLAMPSIA

    Directory of Open Access Journals (Sweden)

    Ratna Bulusu

    2017-01-01

    Full Text Available BACKGROUND Hypertensive disorders complicate 5-10% of all pregnancies. Screening for these factors in the second trimester of pregnancy will help in early detection of hypertensive disorders of pregnancy, thus enabling. 1. Early identification of patients at risk of developing preeclampsia and eclampsia. 2. Prophylactic medication to prevent hypertension or to reduce its severity. 3. Proper antenatal care. The aim of the study is to study the accuracy of serum uric acid levels in early second trimester (14-20 weeks as early predictor of preeclampsia. MATERIALS AND METHODS 100 pregnant normotensive women between 14-20 weeks gestation with singleton pregnancy irrespective of parity were selected randomly and serum levels of uric acid was estimated. Regular follow up of the cases was done till delivery. Number of cases developing preeclampsia was noted. Results were analysed statistically. RESULTS Out of the 100 patients enrolled in the study, 11 developed preeclampsia while rest 89 remained normotensive. Mean value of uric acid in preeclampsia cases was 6.28±0.86 mg/dL while that in normotensive cases was 3.42±0.94 mg/dL. This result was statistically significant. CONCLUSION Serum uric acid level at 14-20 weeks of gestation was significantly raised in the cases who developed preeclampsia as compared to those who remained normotensive. Hence, serum uric acid estimation at 14-20 weeks of gestation could be used as an effective parameter for predicting preeclampsia.

  1. Predictive role of prenasal thickness and nasal bone for Down syndrome in the second trimester.

    Science.gov (United States)

    Ozcan, Tulin; Özlü, Tülay; Allen, Julie; Peterson, Jeanne; Pressman, Eva K

    2013-12-01

    To assess the efficacy of prenasal thickness (PNT) and nasal bone (NB) for prediction of Down syndrome (DS) fetuses in the second trimester ultrasound examination. PNT was measured from stored two-dimensional fetal profile images taken at 15-23 weeks in 242 fetuses with normal karyotype (Group 1) and 24 fetuses with DS (Group 2). It was measured as the shortest distance from the anterior edge of the lowest part of the frontal bone to the skin. The efficacy of PNT, NB, PNT/NB and biparietal diameter (BPD)/NB was evaluated for prediction of DS. PNT values increased with gestational age in normal fetuses. PNT measurement was ≥95th percentile in 54.2% (13/24) of the DS cases and 2.9% of the normal cases. Receiver operator curve analysis showed that PNT/NB ratio had the best area under the curve with a detection rate of 80% for a false positive rate of 5% at a cut-off value of 0.76. PNT is increased in fetuses with DS as compared to normal fetuses. PNT/NB≥0.76 in the second trimester is a better predictor of DS than the use of PNT or NB alone. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  2. Factors affecting delays in first trimester pregnancy termination services in New Zealand.

    Science.gov (United States)

    Silva, Martha; McNeill, Rob; Ashton, Toni

    2011-04-01

    To identify the factors affecting the timeliness of services in first trimester abortion service in New Zealand. Primary data were collected from all patients attending nine abortion clinics between February and May 2009. The outcome measured was delay between the first visit with a referring doctor and the date of the abortion procedure. Patient records (n=2,950) were audited to determine the timeline between the first point of entry to the health system and the date of abortion. Women were also invited to fill out a questionnaire identifying personal factors affecting access to services (n=1,086, response rate = 36.8%). Women who went to private clinic had a significantly shorter delay compared to public clinics. Controlling for clinic type, women who went to clinics that offered medical abortions or clinics that offered single day services experienced less delay. Also, women who had more than one visit with their referring doctor experienced a greater delay than those who had a single visit. The earlier in pregnancy women sought services the longer the delay. Women's decision-making did not have a significant effect on delay. Several clinic level and systemic factors are significantly associated with delay in first trimester abortion services. In order to ensure the best physical and emotional outcomes, timeliness of services must improve. © 2011 The Authors. ANZJPH © 2011 Public Health Association of Australia.

  3. Noninvasive Recording of True-to-Form Fetal ECG during the Third Trimester of Pregnancy

    Directory of Open Access Journals (Sweden)

    Istvan Peterfi

    2014-01-01

    Full Text Available Objective. The aim of the study was to develop a complex electrophysiological measurement system (hardware and software which uses the methods of electrophysiology and provides significant information about the intrauterine status of the fetus, intending to obtain true-to-form, morphologically evaluated fetal ECG from transabdominal maternal lead. Results. The present method contains many novel ideas that allow creating true-to-form noninvasive fetal ECG in the third trimester of the pregnancy in 80% of the cases. Such ideas are the telemetric data collection, the “cleanse” of the real time recording from the maternal ECG, and the use of the cardiotocograph (CTG that allows identifying the fetal heart events. The advantage of this developed system is that it does not require any qualified staff, because both the extraction of the information from the abdominal recording and the processing of the data are automatic. Discussion. Although the idea of a noninvasive fetal electrocardiography is more than 100 years old still there is no simple, effective, and cheap method available that would enable an extensive use. This developed system can be used in the third trimester of the pregnancy efficiently. It can produce true-to-form fetal ECGs with amplitude less than 10 µV.

  4. Impact of Second Trimester Maternal Dietary Intake on Gestational Weight Gain and Neonatal Birth Weight

    Directory of Open Access Journals (Sweden)

    Malshani L. Pathirathna

    2017-06-01

    Full Text Available Poor maternal nutrition is a major contributor to the high incidence of low birth weight deliveries in developing countries. This study aimed to assess the impact of second trimester maternal dietary intake on gestational weight gain and neonatal birth weight. A longitudinal study was conducted in a tertiary care hospital in Sri Lanka. Participants were 141 pregnant women at 18–24 weeks gestation who were followed up until delivery. Maternal dietary intake was assessed using a validated Food Frequency Questionnaire at 21.1 ± 1.8 gestational weeks. Gestational weight gain was examined at the end of 28 weeks gestation and at the end of pregnancy. Energy and nutrient intakes were calculated using NutriSurvey 2007 (EBISpro, Willstaett, Germany nutrient analysis software, modified for Sri Lankan foods. The mean total gestational weight gain of women with low carbohydrate intake (229–429 g/day was 2.2 kg less than that of women with moderate carbohydrate intake (430–629 g/day (95% confidence interval (CI 0.428–4.083 kg; p = 0.016. Similarly, babies of women with low carbohydrate intake were 312 g lighter compared with those of women with a moderate carbohydrate intake (95% CI 91–534 g; p = 0.006. Our results suggest that second trimester maternal carbohydrate intake has significant impacts on total gestational weight gain and neonatal birth weight.

  5. Role of Oxidative Stress on Vaginal Bleeding during The First Trimester of Pregnant Women

    Directory of Open Access Journals (Sweden)

    Rüya Deveer

    2014-01-01

    Full Text Available Background: Reactive oxygen species (ROS are produced in many metabolic and physiologic processes. Antioxidative mechanisms remove these harmful species. Our aim was to assess whether serum total antioxidant capacity and total oxidant status altered during first trimester pregnancies with vaginal bleeding. Materials and Methods: In this cross-sectional study, A group of pregnant women at less than 10 weeks of gestation with vaginal bleeding (n=25 and a control group of healthy pregnancies with similar characteristics (n=25 were included. All of the patients in the two groups were matched for age, gestational age and body mass index. Serum total antioxidant capacity and total oxidant status levels were determined using a Hitachi 912 analyzer and compared between the two groups. Results: Characteristics, including maternal age, parity, and gestational age were similar between the two groups. Serum total antioxidant capacity levels were significantly lower in the women with vaginal bleeding than in control women (1.16 ± 0.20 vs. 1.77 ± 0.08 mmol Trolox Equiv./L; p=0.001, whereas higher total oxidant status measurements were found in women with vaginal bleeding compared to the control group (4.01 ± 0.20 vs. 2.57 ± 0.65 μmol H2O2 Equiv./L; p=0.001. Conclusion: Increased total oxidant status might be involved in the pathophysiology of vaginal bleeding during early first trimester pregnancies.

  6. Lower dietary vitamin E intake during the second trimester is associated with insulin resistance and hyperglycemia later in pregnancy.

    Science.gov (United States)

    Ley, S H; Hanley, A J; Sermer, M; Zinman, B; O'Connor, D L

    2013-11-01

    Beneficial effects of vitamin E on insulin sensitivity have been reported in observational and short-term intervention studies in non-pregnant populations. We aimed to investigate whether dietary vitamin E intake during the second trimester would be associated with glucose metabolism later in pregnancy and whether this association would be influenced by an insulin-sensitizing hormone adiponectin. Women with singleton pregnancies (n=205) underwent a 3-h oral glucose tolerance test at 30 weeks gestation and were asked to recall second trimester dietary intake. Higher dietary vitamin E intake was associated with lower fasting glucose, lower HOMA insulin resistance, and higher Matsuda insulin sensitivity index after covariate adjustment including serum adiponectin among women consuming daily multivitamin supplements (all P≤0.03). Lower dietary vitamin E intake during the second trimester is associated with hyperglycemia and insulin resistance later in pregnancy among women consuming daily multivitamin supplementations. Further, these associations are not influenced by adiponectin.

  7. [Anaesthetic management of patients in the third trimester of pregnancy undergoing urgent laparoscopic surgery. Experience in a general hospital].

    Science.gov (United States)

    López-Collada Estrada, María; Olvera Martínez, Rosalba

    2016-01-01

    Laparoscopic surgery is well accepted as a safe technique when performed on a third trimester pregnant woman. The aim is to describe the anaesthetic management of a group of patients undergoing this type of surgery. An analysis was made of records of 6 patients in their third trimester of pregnancy and who underwent urgent laparoscopic surgery from 2011 to 2013. The study included 6 patients, with a diagnosis of acute cholecystitis in 4 of them. The other 2 patients had acute appendicitis, both of who presented threatened preterm labour. The most frequent indications for laparoscopic surgery during the last trimester of birth were found to be acute cholecystitis and acute appendicitis. Acute appendicitis is related to an elevated risk of presenting threatened preterm labour. Copyright © 2015 Academia Mexicana de Cirugía A.C. Publicado por Masson Doyma México S.A. All rights reserved.

  8. Comparison of placental three-dimensional power Doppler indices and volume in the first and second trimesters of pregnancy complicated by gestational diabetes mellitus.

    Science.gov (United States)

    Wong, Chian-Huey; Chen, Chie-Pein; Sun, Fang-Ju; Chen, Chen-Yu

    2018-05-01

    To compare the changes of placental three-dimensional power Doppler indices and volume in the first and second trimesters of pregnancy with gestational diabetes mellitus (GDM). This was a prospective case-control study of singleton pregnancies with risk factors for GDM. Data on placental vascular indices including vascularization index (VI), flow index (FI), and vascularization flow index (VFI), as well as placental volume were obtained and analyzed during the first and second trimesters between pregnant women with and without GDM. Of the 155 pregnant women enrolled, 31 developed GDM and 124 did not. VI and VFI were significantly lower in the GDM group during the first and second trimesters (VI: p = 0.023, and VFI: p = 0.014 in the first trimester; VI: p = 0.049, and VFI: p = 0.031 in the second trimester). However, the placental volume was similar in both groups during the first trimester, while it was significantly increased in the GDM group during the second trimester (p = 0.022). There were no significant differences in FI and uterine artery pulsatility index between the two groups. After adjustments in multivariate logistic regression analysis, significant differences were observed in the first trimester VFI (adjusted odds ratio (OR) 0.76, 95% confidence interval (CI) 0.61-0.93), second trimester VFI (adjusted or 0.83, 95% CI 0.71-0.96), and second trimester placental volume (adjusted or 1.03, 95% CI 1.01-1.05). Placental vascular indices can provide an insight into placental vascularization in GDM during early pregnancy. VFI rather than placental volume may be a sensitive sonographic marker in the first trimester of GDM placentas.

  9. The Impact of Reconstruction Methods, Phylogenetic Uncertainty and Branch Lengths on Inference of Chromosome Number Evolution in American Daisies (Melampodium, Asteraceae).

    Science.gov (United States)

    McCann, Jamie; Schneeweiss, Gerald M; Stuessy, Tod F; Villaseñor, Jose L; Weiss-Schneeweiss, Hanna

    2016-01-01

    Chromosome number change (polyploidy and dysploidy) plays an important role in plant diversification and speciation. Investigating chromosome number evolution commonly entails ancestral state reconstruction performed within a phylogenetic framework, which is, however, prone to uncertainty, whose effects on evolutionary inferences are insufficiently understood. Using the chromosomally diverse plant genus Melampodium (Asteraceae) as model group, we assess the impact of reconstruction method (maximum parsimony, maximum likelihood, Bayesian methods), branch length model (phylograms versus chronograms) and phylogenetic uncertainty (topological and branch length uncertainty) on the inference of chromosome number evolution. We also address the suitability of the maximum clade credibility (MCC) tree as single representative topology for chromosome number reconstruction. Each of the listed factors causes considerable incongruence among chromosome number reconstructions. Discrepancies between inferences on the MCC tree from those made by integrating over a set of trees are moderate for ancestral chromosome numbers, but severe for the difference of chromosome gains and losses, a measure of the directionality of dysploidy. Therefore, reliance on single trees, such as the MCC tree, is strongly discouraged and model averaging, taking both phylogenetic and model uncertainty into account, is recommended. For studying chromosome number evolution, dedicated models implemented in the program ChromEvol and ordered maximum parsimony may be most appropriate. Chromosome number evolution in Melampodium follows a pattern of bidirectional dysploidy (starting from x = 11 to x = 9 and x = 14, respectively) with no prevailing direction.

  10. The Impact of Reconstruction Methods, Phylogenetic Uncertainty and Branch Lengths on Inference of Chromosome Number Evolution in American Daisies (Melampodium, Asteraceae.

    Directory of Open Access Journals (Sweden)

    Jamie McCann

    Full Text Available Chromosome number change (polyploidy and dysploidy plays an important role in plant diversification and speciation. Investigating chromosome number evolution commonly entails ancestral state reconstruction performed within a phylogenetic framework, which is, however, prone to uncertainty, whose effects on evolutionary inferences are insufficiently understood. Using the chromosomally diverse plant genus Melampodium (Asteraceae as model group, we assess the impact of reconstruction method (maximum parsimony, maximum likelihood, Bayesian methods, branch length model (phylograms versus chronograms and phylogenetic uncertainty (topological and branch length uncertainty on the inference of chromosome number evolution. We also address the suitability of the maximum clade credibility (MCC tree as single representative topology for chromosome number reconstruction. Each of the listed factors causes considerable incongruence among chromosome number reconstructions. Discrepancies between inferences on the MCC tree from those made by integrating over a set of trees are moderate for ancestral chromosome numbers, but severe for the difference of chromosome gains and losses, a measure of the directionality of dysploidy. Therefore, reliance on single trees, such as the MCC tree, is strongly discouraged and model averaging, taking both phylogenetic and model uncertainty into account, is recommended. For studying chromosome number evolution, dedicated models implemented in the program ChromEvol and ordered maximum parsimony may be most appropriate. Chromosome number evolution in Melampodium follows a pattern of bidirectional dysploidy (starting from x = 11 to x = 9 and x = 14, respectively with no prevailing direction.

  11. Structure of the human chromosome interaction network.

    Directory of Open Access Journals (Sweden)

    Sergio Sarnataro

    Full Text Available New Hi-C technologies have revealed that chromosomes have a complex network of spatial contacts in the cell nucleus of higher organisms, whose organisation is only partially understood. Here, we investigate the structure of such a network in human GM12878 cells, to derive a large scale picture of nuclear architecture. We find that the intensity of intra-chromosomal interactions is power-law distributed. Inter-chromosomal interactions are two orders of magnitude weaker and exponentially distributed, yet they are not randomly arranged along the genomic sequence. Intra-chromosomal contacts broadly occur between epigenomically homologous regions, whereas inter-chromosomal contacts are especially associated with regions rich in highly expressed genes. Overall, genomic contacts in the nucleus appear to be structured as a network of networks where a set of strongly individual chromosomal units, as envisaged in the 'chromosomal territory' scenario derived from microscopy, interact with each other via on average weaker, yet far from random and functionally important interactions.

  12. Chromosomal aberrations in benign prostatic hyperplasia patients

    Directory of Open Access Journals (Sweden)

    Muammer Altok

    2016-01-01

    Full Text Available Purpose: To investigate the chromosomal changes in patients with benign prostatic hyperplasia (BPH. Materials and Methods: A total of 54 patients diagnosed with clinical BPH underwent transurethral prostate resection to address their primary urological problem. All patients were evaluated by use of a comprehensive medical history and rectal digital examination. The preoperative evaluation also included serum prostate-specific antigen (PSA measurement and ultrasonographic measurement of prostate volume. Prostate cancer was detected in one patient, who was then excluded from the study. We performed conventional cytogenetic analyses of short-term cultures of 53 peripheral blood samples obtained from the BPH patients. Results: The mean (±standard deviation age of the 53 patients was 67.8±9.4 years. The mean PSA value of the patients was 5.8±7.0 ng/mL. The mean prostate volume was 53.6±22.9 mL. Chromosomal abnormalities were noted in 5 of the 53 cases (9.4%. Loss of the Y chromosome was the most frequent chromosomal abnormality and was observed in three patients (5.7%. There was no statistically significant relationship among age, PSA, prostate volume, and chromosomal changes. Conclusions: Loss of the Y chromosome was the main chromosomal abnormality found in our study. However, this coexistence did not reach a significant level. Our study concluded that loss of the Y chromosome cannot be considered relevant for the diagnosis of BPH as it is for prostate cancer. Because BPH usually occurs in aging men, loss of the Y chromosome in BPH patients may instead be related to the aging process.

  13. Dosimetric data for the fetus derived from an anatomical model of its mother at the end of the first trimester

    International Nuclear Information System (INIS)

    Davis, J.L.; Stabin, M.G.; Cristy, M.; Ryman, J.C.

    1986-01-01

    We discuss a study of the radiation transport of monoenergetic photons within a mathematical phantom of the pregnant female at the end of the first trimester. This phantom was developed from the adult female member of the ORNL phantom series with modifications reflecting anatomical changes at this stage of pregnancy. This geometry was incorporated into the ALGAMP Monte Carlo radiation transport code used at ORNL with the phantom series. For internal sources of radiation the emission of 60,000 monoenergetic photons at each of 12 energies within 30 organs of the body was simulated. Energy deposition within 158 regions of the body, including uterine wall, uterine contents, and 12 subregions within the contents, was tabulated. The results are presented in terms of the specific absorbed fraction, i.e., the fraction of the photon energy emitted within a source organ that is absorbed per unit mass of the target region. The specific absorbed fraction data are commonly used to evaluate the dose associated with internal emitters, e.g., from administered radiopharmaceuticals. Additional calculations have been performed for a uniform, isotropic field of photons incident on the surface of the phantom; these data provide information on the shielding of the fetus by the mother and are of interest in evaluation of doses from external radiation fields. In this study we have provided dosimetric information useful in making quantitative risk estimates for the developing fetus. Our investigations demonstrate that even at this early stage in pregnancy the effective dose equivalent to the mother cannot be used as an index of the dose equivalent to the fetus. Further efforts will be directed to consideration of later stages in fetal development and consideration of irradiation by external neutron fields

  14. Chromosome breakage in Vicia faba by ozone

    Energy Technology Data Exchange (ETDEWEB)

    Fetner, R H

    1958-02-15

    Meristem cells of Vicia faba roots were exposed to an atmosphere of ozone and the fraction of cells showing chromosome aberrations were recorded. Chromosome aberrations were observed on a dose-response basis after exposing the seeds to 0.4 wt. percent ozone for 15, 30, and 60 minutes. The results of ozone, x-rays, and ozone and x-ray treatments are presented. A small number of root tips from each group was treated with colchicine and an analysis made of metaphase aberrations. These observations confirmed that the aberrations were all of the chromosome-type.

  15. Genetic and chromosomal effects of ionizing radiation

    International Nuclear Information System (INIS)

    Anon.

    1981-01-01

    The genetic and chromosomal effects of ionizing radiations deal with those effects in the descendants of the individuals irradiated. The information base concerning genetic and chromosomal injury to humans from radiation is less adequate than is the information base for cancer and leukemia. As a result, it is not possible to make the kinds of quantitative estimates that have been made for carcinogenesis in previous chapters of this book. The chapter includes a detailed explanation of various types of genetic injuries such as chromosomal diseases, x-linked diseases, autosomal dominant diseases, recessive diseases, and irregularly inherited diseases. Quantitative estimates of mutation rates and incidences are given based on atomic bomb survivors data

  16. Chromosome mosaicism in hypomelanosis of Ito.

    Science.gov (United States)

    Ritter, C L; Steele, M W; Wenger, S L; Cohen, B A

    1990-01-01

    Our finding of chromosome mosaicism with a ring 22 in a retarded black boy with hypomelanosis of Ito prompted a review of this "syndrome." Most patients have a variety of non-dermal defects, particularly those affecting CNS function. Among karyotyped patients, most are chromosome mosaics of one sort or another. Hypomelanosis of Ito turns out to be a causable non-specific phenotype, i.e., a clinical marker for chromosome mosaicism of all different types in individuals with a dark enough skin to show lighter patches. Consequently, cytogenetic evaluation is indicated in all patients with this skin finding.

  17. Antibodies against chromosomal beta-lactamase

    DEFF Research Database (Denmark)

    Giwercman, B; Rasmussen, J W; Ciofu, Oana

    1994-01-01

    A murine monoclonal anti-chromosomal beta-lactamase antibody was developed and an immunoblotting technique was used to study the presence of serum and sputum antibodies against Pseudomonas aeruginosa chromosomal group 1 beta-lactamase in patients with cystic fibrosis (CF). The serum antibody...... 1 cephalosporinase. We found a wide range of chromosomal beta-lactamase activity in the sputum samples, with no correlation with basal or induced activity of beta-lactamase expression. The presence of anti-beta-lactamase antibodies in endobronchial sputum could be an important factor in the defense...

  18. Y chromosome diversity, human expansion, drift, and cultural evolution.

    Science.gov (United States)

    Chiaroni, Jacques; Underhill, Peter A; Cavalli-Sforza, Luca L

    2009-12-01

    The relative importance of the roles of adaptation and chance in determining genetic diversity and evolution has received attention in the last 50 years, but our understanding is still incomplete. All statements about the relative effects of evolutionary factors, especially drift, need confirmation by strong demographic observations, some of which are easier to obtain in a species like ours. Earlier quantitative studies on a variety of data have shown that the amount of genetic differentiation in living human populations indicates that the role of positive (or directional) selection is modest. We observe geographic peculiarities with some Y chromosome mutants, most probably due to a drift-related phenomenon called the surfing effect. We also compare the overall genetic diversity in Y chromosome DNA data with that of other chromosomes and their expectations under drift and natural selection, as well as the rate of fall of diversity within populations known as the serial founder effect during the recent "Out of Africa" expansion of modern humans to the whole world. All these observations are difficult to explain without accepting a major relative role for drift in the course of human expansions. The increasing role of human creativity and the fast diffusion of inventions seem to have favored cultural solutions for many of the problems encountered in the expansion. We suggest that cultural evolution has been subrogating biologic evolution in providing natural selection advantages and reducing our dependence on genetic mutations, especially in the last phase of transition from food collection to food production.

  19. Mechanisms and consequences of paternally transmitted chromosomal abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Marchetti, F; Wyrobek, A J

    2005-04-05

    Paternally transmitted chromosomal damage has been associated with pregnancy loss, developmental and morphological defects, infant mortality, infertility, and genetic diseases in the offspring including cancer. There is epidemiological evidence linking paternal exposure to occupational or environmental agents with an increased risk of abnormal reproductive outcomes. There is also a large body of literature on germ cell mutagenesis in rodents showing that treatment of male germ cells with mutagens has dramatic consequences on reproduction producing effects such as those observed in human epidemiological studies. However, we know very little about the etiology, transmission and early embryonic consequences of paternally-derived chromosomal abnormalities. The available evidence suggests that: (1) there are distinct patterns of germ cell-stage differences in the sensitivity of induction of transmissible genetic damage with male postmeiotic cells being the most sensitive; (2) cytogenetic abnormalities at first metaphase after fertilization are critical intermediates between paternal exposure and abnormal reproductive outcomes; and, (3) there are maternally susceptibility factors that may have profound effects on the amount of sperm DNA damage that is converted into chromosomal aberrations in the zygote and directly affect the risk for abnormal reproductive outcomes.

  20. Determinants of first and second trimester induced abortion - results from a cross-sectional study taken place 7 years after abortion law revisions in Ethiopia.

    Science.gov (United States)

    Bonnen, Kristine Ivalu; Tuijje, Dereje Negussie; Rasch, Vibeke

    2014-12-19

    In 2005 Ethiopia took the important step to protect women's reproductive health by liberalizing the abortion law. As a result women were given access to safe pregnancy termination in first and second trimester. This study aims to describe socio-economic characteristics and contraceptive experience among women seeking abortion in Jimma, Ethiopia and to describe determinants of second trimester abortion. A cross-sectional study conducted October 2011 - April 2012 in Jimma Town, Ethiopia among women having safely induced abortion and women having unsafely induced abortion. In all 808 safe abortion cases and 21 unsafe abortion cases were included in the study. Of the 829 abortions, 729 were first trimester and 100 were second trimester abortions. Bivariate and multivariate logistic regressions were used to determine risk factors associated with second trimester abortion. The associations are presented as odds ratios (OR) with 95% confidential intervals. Age stratified analyses of contraceptive experience among women with first and second trimester abortions are also presented. Socio-economic characteristics associated with increased ORs of second trimester abortion were: age abortion where only 15% and 19% stated they had ever used contraception. Young age, poor education and the prospect of single parenthood were associated with second trimester abortion. Young girls and young women were using contraception comparatively less often than older women. To ensure women full right to control their fertility in the setting studied, modern contraception should be made available, accessible and affordable for all women, regardless of age.

  1. Changes in circulating level of IGF-I and IGF-binding protein-1 from the first to second trimester as predictors of preeclampsia

    DEFF Research Database (Denmark)

    Vatten, Lars J; Nilsen, Tom I L; Juul, Anders

    2008-01-01

    To assess whether circulating IGF-I and IGF-binding protein-1 (IGFBP-1) in the first and second trimester are associated with subsequent risk of preterm and term preeclampsia.......To assess whether circulating IGF-I and IGF-binding protein-1 (IGFBP-1) in the first and second trimester are associated with subsequent risk of preterm and term preeclampsia....

  2. Exposure to candesartan during the first trimester of pregnancy in type 1 diabetes: experience from the placebo-controlled diabetic retinopathy candesartan trials

    DEFF Research Database (Denmark)

    Porta, M; Hainer, J W; Jansson, S-O

    2011-01-01

    AIMS/HYPOTHESIS: The teratogenic consequences of angiotensin-converting enzyme inhibitors angiotensin receptor blockers (ARBs) during the second and third trimesters of pregnancy are well described. However, the consequences of exposure during the first trimester are unclear, especially in diabet...

  3. HIM-8 binds to the X chromosome pairing center and mediates chromosome-specific meiotic synapsis.

    Science.gov (United States)

    Phillips, Carolyn M; Wong, Chihunt; Bhalla, Needhi; Carlton, Peter M; Weiser, Pinky; Meneely, Philip M; Dernburg, Abby F

    2005-12-16

    The him-8 gene is essential for proper meiotic segregation of the X chromosomes in C. elegans. Here we show that loss of him-8 function causes profound X chromosome-specific defects in homolog pairing and synapsis. him-8 encodes a C2H2 zinc-finger protein that is expressed during meiosis and concentrates at a site on the X chromosome known as the meiotic pairing center (PC). A role for HIM-8 in PC function is supported by genetic interactions between PC lesions and him-8 mutations. HIM-8 bound chromosome sites associate with the nuclear envelope (NE) throughout meiotic prophase. Surprisingly, a point mutation in him-8 that retains both chromosome binding and NE localization fails to stabilize pairing or promote synapsis. These observations indicate that stabilization of homolog pairing is an active process in which the tethering of chromosome sites to the NE may be necessary but is not sufficient.

  4. HIM-8 binds to the X chromosome pairing center and mediates chromosome-specific meiotic synapsis

    International Nuclear Information System (INIS)

    Phillips, Carolyn M.; Wong, Chihunt; Bhalla, Needhi; Carlton, Peter M.; Weiser, Pinky; Meneely, Philip M.; Dernburg, Abby F.

    2005-01-01

    The him-8 gene is essential for proper meiotic segregation of the X chromosomes in C. elegans. Here we show that loss of him-8 function causes profound X-chromosome-specific defects in homolog pairing and synapsis.him-8 encodes a C2H2 zinc finger protein that is expressed during meiosis and concentrates at a site on the X chromosome known as themeiotic Pairing Center (PC). A role for HIM-8 in PC function is supported by genetic interactions between PC lesions and him-8 mutations. HIM-8-bound chromosome sites associate with the nuclear envelope (NE)throughout meiotic prophase. Surprisingly, a point mutation in him-8 that retains both chromosome binding and NE localization fails to stabilize pairing or promote synapsis. These observations indicate that stabilization of homolog pairing is an active process in which the tethering of chromosome sites to the NE may be necessary but is not sufficient

  5. Foveal and parafoveal retinal thickness in healthy pregnant women in their last trimester

    Directory of Open Access Journals (Sweden)

    Demir M

    2011-09-01

    Full Text Available Mehmet Demir, Ersin Oba, Efe Can, Mahmut Odabasi, Semra Tiryaki, Erhan Ozdal, Hakan SensozEye Clinic, Sisli Etfal Training and Research Hospital, Istanbul, TurkeyPurpose: The inspection of foveal and parafoveal thickness in healthy pregnant women in the last trimester.Materials and methods: This study included 40 healthy pregnant women in their last trimester (study group: 40 women, 80 eyes and 37 nonpregnant women (control group: 37 women, 74 eyes. Visual acuity, intraocular pressure, slit lamp examination of anterior and posterior segments, and visual field examination with automated perimetry were performed in both groups. Foveal and parafoveal thickness in the four quadrants (upper, nasal, temporal, and inferior parafoveal and peripapillary retinal nerve fiber layer were measured by optical coherence tomography. There were no systemic or ocular problems in either group. Findings were analyzed with statistical software. A P value <0.05 was considered statistically significant.Results: Mean foveal and parafoveal thicknesses in the study group were: foveal 236.12 ± 27.28 µm, upper quadrant 321.31 ± 12.28 µm, temporal quadrant 307.0 ± 12.05 µm, inferior quadrant 317.0 ± 10.58 µm, and nasal quadrant 313.62 ± 14.51 µm. Mean foveal and parafoveal thicknesses in the control group were: foveal 224.62 ± 21.19 µm, upper quadrant 311.62 ± 12.71 µm, temporal quadrant 296.87 ± 13.78 µm, inferior quadrant 305.43 ± 13.25 µm, and nasal quadrant 304.93 ± 13.44 µm. Mean retinal nerve fiber layer thicknesses in the study and control group were 110 ± 12.4 µm and 108 ± 13.1 µm, respectively.Conclusion: Mean retinal thickness in pregnant women was higher than control group in all measurements. Statistically significant difference in thickness was only found in upper, temporal, and inferior parafoveal areas.Keywords: pregnancy, last trimester, foveal and parafoveal thickness, optical coherence tomography

  6. An economic evaluation of second-trimester genetic ultrasonography for prenatal detection of down syndrome.

    Science.gov (United States)

    Vintzileos, A M; Ananth, C V; Fisher, A J; Smulian, J C; Day-Salvatore, D; Beazoglou, T; Knuppel, R A

    1998-11-01

    The objective of this study was to perform an economic evaluation of second-trimester genetic ultrasonography for prenatal detection of Down syndrome. More specifically, we sought to determine the following: (1) the diagnostic accuracy requirements (from the cost-benefit point of view) of genetic ultrasonography versus genetic amniocentesis for women at increased risk for fetal Down syndrome and (2) the possible economic impact of second-trimester genetic ultrasonography for the US population on the basis of the ultrasonographic accuracies reported in previously published studies. A cost-benefit equation was developed from the hypothesis that the cost of universal genetic amniocentesis of patients at increased risk for carrying a fetus with Down syndrome should be at least equal to the cost of universal genetic ultrasonography with amniocentesis used only for those with abnormal ultrasonographic results. The main components of the equation included the diagnostic accuracy of genetic ultrasonography (sensitivity and specificity for detecting Down syndrome), the costs of the amniocentesis package and genetic ultrasonography, and the lifetime cost of Down syndrome cases not detected by the genetic ultrasonography. After appropriate manipulation of the equation a graph was constructed, representing the balance between sensitivity and false-positive rate of genetic ultrasonography; this was used to examine the accuracy of previously published studies from the cost-benefit point of view. Sensitivity analyses included individual risks for Down syndrome ranging from 1:261 (risk of a 35-year-old at 18 weeks' gestation) to 1:44 (risk of a 44-year-old at 18 weeks' gestation). This economic evaluation was conducted from the societal perspective. Genetic ultrasonography was found to be economically beneficial only if the overall sensitivity for detecting Down syndrome was >74%. Even then, the cost-benefit ratio depended on the corresponding false-positive rate. Of the 7

  7. Transvaginal ultrasonography in first trimester of pregnancy and its comparison with transabdominal ultrasonography

    Directory of Open Access Journals (Sweden)

    Aneet Kaur

    2011-01-01

    Full Text Available Objectives : Examination of pregnant women in the first trimester with transvaginal ultrasonography with the aim to study various fetal development markers, e.g., gestation sac, yolk sac, fetal heart motion, CRL length, and fetal anatomy in both normal and abnormal pregnancies. Comparative evaluation of transvaginal ultrasonography vis-ΰ-vis transabdominal scanning in the study of first trimester of pregnancy and its complications. To assess the relative merits and demerits of transvaginal ultrasonography in comparison with the transabdominal technique. Materials and Methods : The study will be conducted on 50 females patients during the first trimester of pregnancy. The study population will consist of both normal and abnormal pregnancies. These patients will be included on the basis of suspicion of or proven pregnancy of duration up to 12 weeks from LMP. The evaluation of the patients will include the following: Record of patients obstetrical history and clinical examination, record of pregnancy test and relevant investigations, ultrasonic examination of pregnancy. (a Transabdominal ultrasound scanning will be done with moderately distended bladder by using real time scanners with low frequency probe (3/3.5 MHz; (b transvaginal sonography will be done with the real-time sector scanner using high-frequency endovaginal probe (5/7.5 MHz, after the patient voids urine. Relevant images will be taken by using the multiformat automatic camera. Results and Conclusions : In the study of 46 normal intrauterine pregnancies, TVS showed additional information in 36 patients (78.3% as compared to TAS, in detection of gestation sac, yolk sac, double bleb sign, or better visualization of embryonic anatomy. In the abnormal pregnancy (n=17, TVS provided more information in 11 cases (64.9%, which included detection of embryonic demise, yolk sac, double bleb sign, or subchorionic hemorrhage. Regarding ectopic gestations (n=7, TVS gave additional information in 5

  8. Elevated second-trimester serum homocyst(e)ine levels and subsequent risk of preeclampsia.

    Science.gov (United States)

    Sorensen, T K; Malinow, M R; Williams, M A; King, I B; Luthy, D A

    1999-01-01

    Elevated plasma homocyst(e)ine is a risk factor for endothelial dysfunction and vascular disease. In late gestation, levels of homocyst(e)ine are higher in preeclamptics, as compared with normotensive pregnant women. Our objective was to determine whether homocyst(e)ine elevations precede the development of preeclampsia. We used a prospective nested case-control study design to compare second trimester maternal serum homocyst(e)ine concentrations in 52 patients who developed preeclampsia (pregnancy-induced hypertension with proteinuria) compared with 56 women who remained normotensive throughout pregnancy. Study subjects were selected from a base population of 3, 042 women who provided blood samples at an average gestational age of 16 weeks and later delivered at our center. Serum homocyst(e)ine was measured by high-performance liquid chromatography and electrochemical detection. Approximately 29% of preeclamptics, as compared to 13% of controls had homocyst(e)ine levels >/=5.5 micromol/l (upper decile of distribution of control values). Adjusted for maternal age, parity, and body mass-index, a second trimester elevation of homocyst(e)ine was associated with a 3. 2-fold increased risk of preeclampsia (adjusted OR = 3.2; 95% CI 1. 1-9.2; p = 0.030). There was evidence of a interaction between maternal adiposity (as indicated by her prepregnancy body mass index) and parity with second trimester elevations in serum homocyst(e)ine. Nulliparous women with elevated homocyst(e)ine levels experienced a 9.7-fold increased risk of preeclampsia as compared with multiparous women without homocyst(e)ine elevations (95% CI 2.1-14.1; p = 0.003). Women with a higher prepregnancy body mass index (>/=21.4 kg/m(2), or upper 50th percentile) and who also had elevated homocyst(e)ine levels, as compared with leaner women without homocyst(e)ine elevations were 6.9 times more likely to later develop preeclampsia (95% CI 1.4-32.1; p = 0.016). Our findings are consistent with other

  9. Drug-induced premature chromosome condensation (PCC) protocols: cytogenetic approaches in mitotic chromosome and interphase chromatin.

    Science.gov (United States)

    Gotoh, Eisuke

    2015-01-01

    Chromosome analysis is a fundamental technique which is used in wide areas of cytogenetic study including karyotyping species, hereditary diseases diagnosis, or chromosome biology study. Chromosomes are usually prepared from mitotic cells arrested by colcemid block protocol. However, obtaining mitotic chromosomes is often hampered under several circumstances. As a result, cytogenetic analysis will be sometimes difficult or even impossible in such cases. Premature chromosome condensation (PCC) (see Note 1) is an alternative method that has proved to be a unique and useful way in chromosome analysis. Former, PCC has been achieved following cell fusion method (cell-fusion PCC) mediated either by fusogenic viruses (e.g., Sendai virus) or cell fusion chemicals (e.g., polyethylene glycol), but the cell fusion PCC has several drawbacks. The novel drug-induced PCC using protein phosphatase inhibitors was introduced about 20 years ago. This method is much simpler and easier even than the conventional mitotic chromosome preparation protocol use with colcemid block and furthermore obtained PCC index (equivalent to mitotic index for metaphase chromosome) is usually much higher than colcemid block method. Moreover, this method allows the interphase chromatin to be condensed to visualize like mitotic chromosomes. Therefore drug-induced PCC has opened the way for chromosome analysis not only in metaphase chromosomes but also in interphase chromatin. The drug-induced PCC has thus proven the usefulness in cytogenetics and other cell biology fields. For this second edition version, updated modifications/changes are supplemented in Subheadings 2, 3, and 4, and a new section describing the application of PCC in chromosome science fields is added with citation of updated references.

  10. Human oocyte chromosome analyses need a standardized ...

    Indian Academy of Sciences (India)

    Studies of DNA polymorphisms in human trisomic abor- tions and liveborn have ... Keywords. human oocyte chromosomes; cytogenetic analysis; aneuploidy; nondisjunction; predivision. Journal of .... oocytes and giant embryos. Hum. Reprod.

  11. Conservation of sex chromosomes in lacertid lizards

    Czech Academy of Sciences Publication Activity Database

    Rovatsos, M.; Vukič, J.; Altmanová, M.; Johnson Pokorná, Martina; Moravec, J.; Kratochvíl, L.

    2016-01-01

    Roč. 25, č. 13 (2016), s. 3120-3126 ISSN 0962-1083 Institutional support: RVO:67985904 Keywords : lizards * molecular sex ing * reptiles * sex chromosomes Subject RIV: EG - Zoology Impact factor: 6.086, year: 2016

  12. Micro-Raman spectroscopy of chromosomes

    NARCIS (Netherlands)

    de Mul, F.F.M.; van Welle, A.G.M.; Otto, Cornelis; Greve, Jan

    1984-01-01

    Raman spectra of intact chromosomes (Chinese hamster), recorded with a microspectrometer, are reported. The spectra could be assigned to protein and DNA contributions. Protein and DNA conformations and the ratio of base pairs in DNA were determined.

  13. Chromosomal contact permits transcription between coregulated genes

    CSIR Research Space (South Africa)

    Fanucchi, Stephanie

    2013-10-01

    Full Text Available . To ask whether chromosomal contacts are required for cotranscription in multigene complexes, we devised a strategy using TALENs to cleave and disrupt gene loops in a well-characterized multigene complex. Monitoring this disruption using RNA FISH...

  14. Evaluation of chromosomal abnormalities and common trombophilic ...

    African Journals Online (AJOL)

    2014-03-01

    Mar 1, 2014 ... Infections, genetic, endocrine, anatomic and immunologic problems have been suggested as causes for RM. ... Metaphase chromosome preparations from the .... The rate of karyotypically abnormal abortion specimens.

  15. Histone modifications: Cycling with chromosomal replication

    DEFF Research Database (Denmark)

    Thon, Genevieve

    2008-01-01

    Histone modifications tend to be lost during chromosome duplication. Several recent studies suggest that the RNA interference pathway becomes active during the weakened transcriptional repression occurring at centromeres in S phase, resulting in the re-establishment of histone modifications...

  16. Complement activation in chromosome 13 dementias

    DEFF Research Database (Denmark)

    Rostagno, A.; Revesz, T.; Lashley, T.

    2002-01-01

    Chromosome 13 dementias, familial British dementia (FBD) and familial Danish dementia (FDD), are associated with neurodegeneration and cerebrovascular amyloidosis, with striking neuropathological similarities to Alzheimer's disease (AD). Despite the structural differences among the amyloid subunits...

  17. Non-disjunction of chromosome 13

    DEFF Research Database (Denmark)

    Bugge, Merete; Collins, Andrew; Hertz, Jens Michael

    2007-01-01

    We performed a molecular study with 21 microsatellites on a sample of 82 trisomy 13 conceptuses, the largest number of cases studied to date. The parental origin was determined in every case and in 89% the extra chromosome 13 was of maternal origin with an almost equal number of maternal MI and MII...... recombination in both maternal MI and MII errors and the former is associated with a significant number of tetrads (33%) that are nullichiasmate, which do not appear to be a feature of normal chromosome 13 meiosis. This study supports the evidence for subtle chromosome-specific influences on the mechanisms...... that determine non-disjunction of human chromosomes, consistent with the diversity of findings for other trisomies. Udgivelsesdato: 2007-Aug-15...

  18. System for the analysis of plant chromosomes

    International Nuclear Information System (INIS)

    Medina Martin, D.; Peraza Gonzalez, L.H.

    1996-01-01

    The paper describes a computer system for the automation workers of recognition analysis and interpretation of plant chromosomes. This system permit to carry out the analysis in a more comfortable and faster way, using the image processing techniques

  19. Sex chromosomes and speciation in Drosophila

    Science.gov (United States)

    Presgraves, Daven C.

    2010-01-01

    Two empirical rules suggest that sex chromosomes play a special role in speciation. The first is Haldane's rule— the preferential sterility and inviability of species hybrids of the heterogametic (XY) sex. The second is the disproportionately large effect of the X chromosome in genetic analyses of hybrid sterility. Whereas the causes of Haldane's rule are well established, the causes of the ‘large X-effect’ have remained controversial. New genetic analyses in Drosophila confirm that the X is a hotspot for hybrid male sterility factors, providing a proximate explanation for the large X-effect. Several other new findings— on faster X evolution, X chromosome meiotic drive, and the regulation of the X chromosome in the male-germline— provide plausible evolutionary explanations for the large X-effect. PMID:18514967

  20. Errata :Chromosomal Abnormalities in Couples with Recurrent ...

    African Journals Online (AJOL)

    Chromosomal Abnormalities in Couples with Recurrent Abortions in Lagos, Nigeria. Akinde OR, Daramola A O, Taiwo I A, Afolayan M O and Akinsola Af. Sonographic Mammary Gland Density Pattern in Women in Selected ommunities of Southern Nigeria.