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Sample records for monochorionic discordant twins

  1. Neonatal morbidity in growth-discordant monochorionic twins: comparison between the larger and the smaller twin.

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    Lopriore, Enrico; Sluimers, Carolien; Pasman, Suzanne A; Middeldorp, Johanna M; Oepkes, Dick; Walther, Frans J

    2012-08-01

    Fetal growth restriction in singletons has been shown to enhance fetal lung maturation and reduce the risk of respiratory distress syndrome due to increased endogenous steroid production. However, data on lung maturation in growth-discordant monochorionic (thus, identical) twins are lacking. Our objective was to compare the risk of severe neonatal morbidity between the larger and the smaller twin in monochorionic twins with birth weight discordance (BWD). We included in the study all consecutive monochorionic diamniotic pregnancies with severe BWD (≥25%) and two live-born twins delivered at our center (n=47 twin pairs). We compared the incidence of neonatal morbidity, particularly respiratory distress syndrome (RDS), and cerebral lesions between the larger and the smaller co-twin. The incidence of severe neonatal morbidity in the larger and smaller twin was 38% (18/47) and 19% (9/47), respectively (odds ratio (OR) 2.66, 95% confidence interval (CI) 0.94-7.44) and was due primarily to the higher incidence of RDS, 32% (15/47) and 6% (3/47), respectively (OR 6.88, 95% CI 1.66-32.83). In conclusion, this study shows that the larger twin in monochorionic twin pairs with BWD is at increased risk of severe neonatal morbidity, particularly RDS, compared to the smaller twin.

  2. Classification of discordant fetal growth may contribute to risk stratification in monochorionic twin pregnancies

    NARCIS (Netherlands)

    van Gemert, MJC; Vandenbussche, FPHA; Schaap, AHP; Zondervan, HA; Nikkels, PGJ; van Wijngaarden, WJ; van Zalen-Sprock, RM; Sollie-Szarynska, KM; Stoutenbeek, PH

    2000-01-01

    Objectives To determine whether classification of discordant growth between fetal twins allows risk stratification in monochorionic twin pregnancies. Methods In 12 twin-to-twin transfusion syndrome (TTTS) pregnancies and 12 cases that were suspected of developing the syndrome, fetal growth was deter

  3. Monozygotic Monochorionic Twins Discordant for Trisomy 21: A Reason to Evaluate Both Fetuses: A Case Report.

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    Macatangga, Monica; De la Calle, Maria; Torres, Maria Luisa; Bartha, Jose Luis

    2016-01-01

    The occurrence of a discordant chromosomal abnormality in monozygotic twins is an extremely rare condition. We report the prenatal sonographic findings and cytogenetic studies in a monochorionic twin pregnancy discordant for severe fetal anomalies. Amniocentesis was normal for both twins. The pregnancy was managed conservatively, resulting in the delivery of discordant twins at 28 weeks. Cytogenetic analysis performed on cultured lymphocytes from peripheral blood revealed a mosaic 47XY+21 (in 2% of the cells)/46XY (in 98%) in the structurally normal twin, and a mosaic 47XY+21 (4%)/46XY (96%) for the abnormal twin. The abnormal neonate died shortly after delivery. The structurally normal twin survived without sequelae and had a normal karyotype 2 years later. This report adds to the literature a case of a monochorionic twin pregnancy with a mosaic fetus who gives his co-twin trisomic cells through placental vascular anastomoses, this twin being a chimera, highlighting the necessity of performing molecular genetics with polymorphic DNA markers to differentiate chimerism from mosaicism and define the origin of cell lines.

  4. Confined blood chimerism in a monochorionic dizygotic sex discordant twin pregnancy conceived after induced ovulation.

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    Mayeur Le Bras, Anne; Petit, François; Benachi, Alexandra; Bedel, Bettina; Oucherif, Salima; Martinovic, Jelena; Armanet, Narjes; Tosca, Lucie; Gautier, Valérie; Parisot, Frédéric; Labrune, Philippe; Tachdjian, Gérard; Brisset, Sophie

    2016-04-01

    Monochorionic twins are generally considered as a monozygotic twin pregnancy. However, several cases of monochorial dizygotic twin pregnancies have been reported. We report on a rare case of monochorionic dizygotic twin pregnancy conceived after induced ovulation in a 32-year-old woman. The diagnosis was made on morphological ultrasound examination at 18+4 weeks of gestation, showing two fetuses with discordant sex. The amniocentesis was declined by the patient. The monochorionic status was confirmed after a histopathalogical study of the placenta. At delivery, both a phenotypically normal boy and a phenotypically normal girl without sexual abnormality were observed. This analysis also revealed the presence of vascular anastomoses between both fetal circulations. Postnatal cytogenetic analyses indicated the presence of a chimerism in peripheral blood lymphocytes. This chimerism was not observed in cells obtained from a buccal swab. Molecular determination of zygosity confirmed the existence of the confined peripheral blood chimerism with the presence of four parental alleles. We report on a case of monochorionic dizygotic twin pregnancy. This observation underlies the need to carefully assess twin pregnancies, especially when obtained after assisted reproductive technology. © 2016 Wiley Periodicals, Inc.

  5. Monochorionic and dichorionic twin pregnancies discordant for fetal anencephaly: a systematic review of prenatal management options.

    Science.gov (United States)

    Lust, Annelies; De Catte, Luc; Lewi, Liesbeth; Deprest, Jan; Loquet, Philippe; Devlieger, Roland

    2008-04-01

    The aim of this study was to evaluate the effect of selective feticide (SF) compared to expectant management (EM) on perinatal outcome in dichorionic and monochorionic twins discordant for anencephaly. For this purpose, we conducted a systematic review of literature and added ten unpublished cases. As a result, we found that in dichorionic twins, mean gestational age (GA) at birth in the SF group was 38.0 weeks versus 34.9 weeks (P = 0.0002). Mean birth weight was 2922 g in the SF group versus 2474 g (P = 0.03). In monochorionic twins, mean GA at birth was 35.2 weeks versus 32.7 weeks (P = 0.1). Mean birth weight was 2711 g versus 1667 g (P = 0.0001). We conclude that while SF does not reduce perinatal mortality, it does result in significantly longer gestations and higher birth weight, and appears to be the management of choice in dichorionic twins discordant for anencephaly. In monochorionic twins, SF also increases birth weight, but in view of the complexity of this group, no clear recommendations can be made.

  6. Outcome following selective fetal reduction in monochorionic and dichorionic twin pregnancies discordant for structural, chromosomal and genetic disorders.

    Science.gov (United States)

    Nobili, Elena; Paramasivam, Gowrishankar; Kumar, Sailesh

    2013-04-01

    To investigate the indications for offering selective fetal reduction in monochorionic (MC) and dichorionic (DC) twins and to correlate obstetric outcome with the antenatal procedure. All cases of MC and DC twins discordant for structural anomalies and for chromosomal/genetic abnormalities were included. Selective reductions performed for twin-to-twin transfusion syndrome or growth restriction were excluded. For DC twins, feticide was achieved using intracardiac injection of potassium chloride (KCl). For MC twins, bipolar cord occlusion (BCO), interstitial laser or radiofrequency ablation (RFA) was used. There were 121 twin pregnancies discordant for structural and chromosomal abnormalities. Only 88 (56 were MC twins and 32 were DC twins) had selective reduction. For both MC and DC twins, the leading indication for selective reduction was structural anomalies with CNS malformations the most common. For all MC fetal reduction techniques, the overall pregnancy loss rate (twins were >87% and 100% for DC twins. Selective reduction in MC pregnancies carries an increased procedure-related and preterm delivery rate compared with DC pregnancies. The main indication for selective reduction was structural malformations, with a predominance of CNS anomalies. © 2013 The Authors ANZJOG © 2013 The Royal Australian and New Zealand College of Obstetricians and Gynaecologists.

  7. Progresses of birthweight discordance in monochorionic twins%单绒毛膜双胎出生体质量不一致的研究进展

    Institute of Scientific and Technical Information of China (English)

    李阳

    2013-01-01

    双胎出生体质量(BW)不一致是双胎妊娠特有的并发症,单绒毛膜(MC)双胎BW不一致发生率高于双绒毛膜(DC)双胎,且并发症多、预后较差,因此早期预测并进行相应处理对改善胎儿及新生儿预后具有重要意义.本文就近年来国内外对MC双胎BW不一致的研究进展进行综述.%Birthweight discordance is a characteristic complication of monochorionic twin pregnancies, with higher incidence compared with dichorionic twin pregnancies. How to predict and manage twin pregnancies with birth discordance earlier is crucial to improving the prognosis. The progresses of researching for birthweight discordance of monochorionic twin pregnancies were reviewed in this article.

  8. Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation.

    Science.gov (United States)

    Rijntjes-Jacobs, Esther G J; Lopriore, Enrico; Steggerda, Sylke J; Kant, Sarina G; Walther, Frans J

    2010-11-01

    The Schimmelpenning-Feuerstein-Mims (SFM) syndrome comprises a craniofacial nevus sebaceus, seizures, developmental delay, ocular and skeletal abnormalities. It is a sporadic condition and hypothesized to result from mosaicism involving a lethal autosomal dominant gene. We report a second occurrence of discordant monozygotic (MZ) twins with severe SFM, supporting the concept of a postzygotic mutation. © 2010 Wiley-Liss, Inc.

  9. Monochorionic-diamniotic discordant growth in a twin pregnancy with one fetus affected by Ebstein's anomaly of tricuspid leaflets.

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    Fukami, Tatsuya; Goto, Maki; Matsuoka, Sakiko; Sorano, Sumire; Tohyama, Atsushi; Yamamoto, Hiroko; Nakamura, Sumie; Matsuoka, Ryoei; Tsujioka, Hiroshi; Eguchi, Fuyuki

    2016-07-01

    Our patient was diagnosed as having discordant twin growth with Ebstein's anomaly in the larger fetus. Cardiac function was deteriorated in accordance with progression of gestational age. Our observation indicated cardiac failure of the larger fetus. The most important issue in this situation is management of the timing of delivery.

  10. Fetoscopic laser coagulation of intertwin anastomoses reduces discordant placental autophagic activities in discordant twin growth

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    Yao-Lung Chang

    2015-10-01

    Conclusion: The discordance of placenta autophagic activity in the monochorionic twin with sIUGR was reduced after laser coagulation of the intertwin anastomoses, which may result from the effect of correction of the discordant intertwin placenta perfusion.

  11. Monochorionic twin pregnancies

    NARCIS (Netherlands)

    Hack, K.E.A.

    2008-01-01

    Following widespread application of assisted reproductive technology modalities and the increased age of motherhood, the incidence of twin gestations has increased markedly. Twins are either monozygotic or dizygotic. Dizygotic (i.e. fraternal) twins result from the fertilization of two different egg

  12. Contemporary management of complicated monochorionic twins.

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    Moise, Karen Y; Kugler, Lisa; Jones, Tyra

    2012-01-01

    Monochorionic twins are at increased risk for unique complications including twin-twin transfusion syndrome (TTTS), selective intrauterine growth restriction (sIUGR), and twin-reversed arterial perfusion (TRAP) sequence. Twin-twin transfusion syndrome is treated with laser photocoagulation whereas selective reduction is an option in previable sIUGR or TRAP sequence. The nurse is integral in the management, education, care and support of women with complicated pregnancies. © 2012 AWHONN, the Association of Women's Health, Obstetric and Neonatal Nurses.

  13. Invasive treatment in complicated monochorionic twin pregnancies

    DEFF Research Database (Denmark)

    Sundberg, Karin; Søgaard, Kirsten; Jensen, Lisa Neerup;

    2012-01-01

    Objective. Monochorionic twin pregnancies are associated with increased risk of severe complications. Umbilical cord occlusion (UCO) and fetoscopic selective laser coagulation (FSLC) are used as invasive treatment. The study aim was to document treatment indications and pregnancy outcome where UCO...... and FSLC were used for treating fetal discrepancies and twin-to-twin transfusion syndrome (TTTS). Design. Cohort study of all consecutively treated monochorionic twin pregnancies 2004-2010. Setting. Tertiary care center. Population. One hundred and twenty pregnancies treated by FSLC (55) or UCO (65...

  14. Vascular distribution patterns in monochorionic twin placentas.

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    De Paepe, M E; DeKoninck, P; Friedman, R M

    2005-07-01

    Several recent publications have focused on the association between the occurrence of twin-to-twin transfusion syndrome (TTTS) in diamniotic-monochorionic twins and the presence of a number of selected anatomic placental characteristics (distribution of vascular territory, cord insertion, type and number of inter-twin anastomoses). In contrast, the potential importance of the vascular distribution patterns of the individual twins remains to be elucidated. Based on its gross architectural distribution pattern, chorionic vasculature is traditionally described as disperse, magistral or mixed. The aim of this study was (1) to determine the relative prevalence of these vascular distribution patterns in monochorionic twin placentas, and (2) to correlate these patterns with the presence of TTTS and known anatomic placental features linked to TTTS. The placentas of 89 consecutive diamniotic-monochorionic twins (15 with TTTS, 74 without TTTS), examined at Women and Infants Hospital, were studied. Disperse vascular patterns were seen in 53% of twins, and magistral or mixed patterns in 47%. The prevalence of magistral/mixed vascular patterns was significantly higher in TTTS gestations than in non-TTTS gestations (60% versus 44%, Ppatterns and marginal/velamentous cord insertion, low number of inter-twin anastomoses, and uneven distribution of the vascular territories. These findings suggest that the magistral/mixed vascular distribution pattern may represent an important placental architectural feature contributing to the complex pathophysiology of TTTS.

  15. Infantile Perineal Protrusion in Two Monochorionic Twins

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    Paola Cavicchioli

    2014-11-01

    Full Text Available Case Report - Two female monochorionic-monoamniotic twins showed the same kind of infantile perineal protrusion (IPP at birth. Lesions in both twins progressively healed until resolution in 6 weeks' time; none of the twins have manifested, till date, alvus disturbances. Discussion and Literature Review - A literature review numbers approximately 100 reports of IPP. This condition has been classically classified into three categories: congenital/familiar (i.e., female sex, positive parental history of IPP, acquired (mainly due to constipation, and associated with lichen sclerosus et atrophicus. Conclusions and Final Remarks - This case report describes, for the first time, the presence of IPP in monochorionic-monoamniotic twins, supporting the existence of hereditary/genetic factors in the developing of this condition.

  16. Monochorionic twins with the same blood karyotype of 46,XY/47,XYY but different phenotypes.

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    Wuttikonsammakit, Piyawadee; Tanawattanacharoen, Somchai; Uerpairojkit, Boonchai

    2010-02-01

    We report the case of a 13-year-old woman who was pregnant with phenotypically discordant monochorionic twins: one with cystic hygroma and hydrops, the other one normal. Fetal blood sampling was performed by intrahepatic blood collection for karyotyping of both fetuses, revealing the same genotype of 46,XY/47,XYY in 2:1 proportion. Phenotypic discordance in monozygotic twins can have various causes, such as placental vascular anatomy, differences in allocation of the number of blastomeres or genetic postzygotic events.

  17. Rare Complications with Monochorionic Twins: Ultrasonography and Pathology Correlations

    Energy Technology Data Exchange (ETDEWEB)

    Song, Mi Jin [Cheil General Hospital and Women' s Healthcare Center, Kwandong University College of Medicine, Seoul (Korea, Republic of)

    2009-12-15

    We reviewed the sonographic features of rare complications with monochorionic twins and we correlated these features with the pathologic findings. The complications, including the twin reversed arterial perfusion sequence, the twin embolization syndrome, the conjoined twins and umbilical cord entanglement. A better understanding of these complications can aid making an accurate prenatal diagnosis and predicting the fetal outcome

  18. Early neonatal morbidity and mortality in growth-discordant twins.

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    Alam Machado, Rita De Cássia; Brizot, Maria De Lourdes; Liao, Adolfo Wenjaw; Krebs, Vera Lucia Jornada; Zugaib, Marcelo

    2009-01-01

    To evaluate early neonatal morbidity and mortality in twin pregnancies with growth discordance. Retrospective study. Tertiary teaching hospital, Sao Paulo, Brazil. A total of 151 twin pregnancies managed and delivered at the Multiple Pregnancy Unit at Sao Paulo University Hospital between 1998 and 2004. METHODS; Comparison between twin pregnancies with weight discordance > or =20% and pregnancies concordant for fetal weight. Cases with fetal death, abnormalities, twin-to-twin transfusion and delivery before 26 weeks or in another hospital were excluded. Early neonatal morbidity (Apgar at 5 minutes pregnancies presented discordance > or =20% and 111 (73.5%) were concordant. In the discordant group, 75% of pregnancies had at least one growth restricted fetus (pregnancies, monochorionic cases (22.5%) presented with lower gestational age (34.3 vs. 36.2 weeks), lower birthweight (2,067 vs. 2,334 g) and a longer period of hospital stay (5.5 vs. 3.0) compared to dichorionic concordant twins. No differences between monochorionic and dichorionic subgroups were observed in discordant twins. Pregnancies in which at least one baby was born with a birthweight below the 10th centile showed that discordant pregnancies had a lower gestational age at delivery (35.2 vs. 36.8 weeks) and a longer period of hospital stay (9 vs. 4 weeks) compared to concordant cases. Neonatal mortality was similar in discordant (3.7%) and concordant (4.5%) twins. Early perinatal morbidity is increased in twin pregnancies with birthweight discordance > or =20% only when associated with fetal growth restriction and low birthweight.

  19. Congenital varicella syndrome in a monochorionic diamniotic twin pregnancy

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    Vania A Villota

    2014-01-01

    Full Text Available Congenital varicella syndrome encompasses a broad spectrum of malformations present in children of mothers who developed chickenpox during the first 20 weeks of gestation. We report a case of a monochorionic diamniotic twin pregnancy, with maternal exposure to chickenpox during the thirteenth week of gestation, which produced one symptomatic and one healthy child.

  20. Discordant Epilepsy in Monozygous Twins

    OpenAIRE

    2001-01-01

    Twelve monozygotic twins, discordant for epilepsy, were analysed for nonhereditary etiological factors by clinical history, MRI, and quantitative brain volume studies at the Brain Research Institute, University of Melbourne, Victoria, Australia.

  1. Prospective risk of fetal death in uncomplicated monochorionic twins.

    LENUS (Irish Health Repository)

    Farah, Nadine

    2012-03-01

    A retrospective cohort study was carried out in a university teaching hospital to determine the prospective risk of unexpected fetal death in uncomplicated monochorionic diamniotic (MCDA) twin pregnancies after viability. All MCDA twins delivered at or after 24 weeks\\' gestation from July 1999 to July 2007 were included. Pregnancies with twin-twin transfusion syndrome, growth restriction, structural abnormalities, or twin reversed arterial perfusion sequence were excluded. Of the 144 MCDA twin pregnancies included in our analysis, the risk of intrauterine death was 4.9%. The prospective risk of unexpected intrauterine death was 1 in 43 after 32 weeks\\' gestation and 1 in 37 after 34 weeks\\' gestation. Our results demonstrate that despite close surveillance, the unexpected intrauterine death rate in uncomplicated MCDA twin pregnancies is high. This rate seems to increase after 34 weeks\\' gestation, suggesting that a policy of elective preterm delivery warrants evaluation.

  2. Hydropic Placenta as a First Manifestation of Twin-Twin Transfusion in a Monochorionic Diamniotic Twin Pregnancy

    NARCIS (Netherlands)

    de Laat, Monique W. M.; Manten, Gwendoline T. R.; Nikkels, Peter G. J.; Stoutenbeek, Philip

    2009-01-01

    Monochorionic twin pregnancies are at a 10% to 1.5% risk of developing twin-twin transfusion syndrome (TTTS).(1) Monitoring such pregnancies is aimed at evaluating the fetal condition by measuring the amount of amniotic fluid, Doppler parameters, and fetal growth. Twin-twin transfusion syndrome may

  3. Hydropic Placenta as a First Manifestation of Twin-Twin Transfusion in a Monochorionic Diamniotic Twin Pregnancy

    NARCIS (Netherlands)

    de Laat, Monique W. M.; Manten, Gwendoline T. R.; Nikkels, Peter G. J.; Stoutenbeek, Philip

    Monochorionic twin pregnancies are at a 10% to 1.5% risk of developing twin-twin transfusion syndrome (TTTS).(1) Monitoring such pregnancies is aimed at evaluating the fetal condition by measuring the amount of amniotic fluid, Doppler parameters, and fetal growth. Twin-twin transfusion syndrome may

  4. Hydropic Placenta as a First Manifestation of Twin-Twin Transfusion in a Monochorionic Diamniotic Twin Pregnancy

    NARCIS (Netherlands)

    de Laat, Monique W. M.; Manten, Gwendoline T. R.; Nikkels, Peter G. J.; Stoutenbeek, Philip

    2009-01-01

    Monochorionic twin pregnancies are at a 10% to 1.5% risk of developing twin-twin transfusion syndrome (TTTS).(1) Monitoring such pregnancies is aimed at evaluating the fetal condition by measuring the amount of amniotic fluid, Doppler parameters, and fetal growth. Twin-twin transfusion syndrome may

  5. [Selective termination of pregnancy for monochorionic twins: a national survey of professional practice].

    Science.gov (United States)

    Arlicot, C; Potin, J; Simon, E; Perrotin, F

    2014-06-01

    Selective Termination of Pregnancy (STOP) for discordant fetal condition in monochorionic twin pregnancy is a rarely performed procedure raising technical and ethical considerations. There are no epidemiological data available in France concerning STOP and no guideline or scientific consensus on how or when to perform has been published. We conducted a study of national practice using a declarative questionnaire sent by e-mail to each medical coordinator of every 48 Multidisciplinary Center for Prenatal Diagnosis in France. The questions focused on the issues of 2010 and 2011. Two reminders were sent in case of no answer. The response rate to the questionnaire was 56 %; 81 % of centers have experienced at least once during the two years 2010-2011 a discordant fetal anomaly in monochorionic twin pregnancy. Only 59 % of centers perform all the techniques of STOP. When interruption of the umbilical blood flow is considered, bipolar forceps coagulation is the most used (75 %). Achieving STOP during a cesarean section is a common practice (75 % of centers). Locoregional anesthesia is the preferred mode of anesthesia for STOP. STOP on monochorionic twin pregnancy is not practiced in all Multidisciplinary Center for Prenatal Diagnosis in France. The most widely practiced and most studied technique is bipolar forceps coagulation. The option of an expectant management should always be considered and its risks should be balanced with those of STOP. The practice of STOP during cesarean section is not unusual. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  6. Blood Chimerism in Dizygotic Monochorionic Twins During 5 Years Observation.

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    Dziegiel, M H; Hansen, M H; Haedersdal, S; Barrett, A N; Rieneck, K; Main, K M; Hansen, A T; Clausen, F B

    2017-04-19

    Dizygotic monochorionic twin pregnancies can result in blood chimerism due to in utero twin-to-twin exchange of stem cells. In this case, we examined the proportion of allogeneic red blood cells by flow cytometry and the proportion of allogeneic nucleated cells by digital polymerase chain reaction at 7 months and again at 5 years. We found an increase in the proportion of allogeneic cells from 63% to 89% in one twin, and a similar increase in autologous cells in the other twin from 57% to 84%. A paradigm for stem cell therapy could be modeled on this case: induction of tolerance and chimerism by antenatal transfusion of donor stem cells. The procedure would hold the promise of transplantation and tolerance induction without myeloablative conditioning for inheritable benign hematological diseases such as sickle cell disease and thalassemia. © 2017 The American Society of Transplantation and the American Society of Transplant Surgeons.

  7. A Rare Case of Antepartum Spontaneous Septostomy in a Monochorionic Diamniotic Twin Pregnancy

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    Rati Chadha

    2012-01-01

    Full Text Available Spontaneous septostomy in a monochorionic diamniotic twin pregnancy is a rare phenomenon. We present a case of monochorionic diamniotic twin pregnancy with an intact dividing membrane seen in the 1st half of the pregnancy. At 26 weeks, when she was assessed for preterm contractions, the dividing membrane was not documented, which suggested spontaneous septostomy. There had been no invasive procedures during the pregnancy. She subsequently delivered at 29 weeks, secondary to preterm labor. No dividing membrane was noticed at the time of caesarian section. Spontaneous septostomy can complicate the management of monochorionic diamniotic twins by creating a pseudomonoamniotic environment resulting in cord entanglement, and difficulty in the diagnosis and management of twin-twin transfusion syndrome. We believe that such a case should be managed as monochorionic monoamniotic twin gestation.

  8. Gestational diabetes insipidus and intrauterine fetal death of monochorionic twins.

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    Wiser, A; Hershko-Klement, A; Fishman, A; Nachasch, N; Fejgin, M

    2008-10-01

    Gestational diabetes insipidus (GDI) is a rare disorder. The onset is usually in the third trimester of pregnancy. We present a 24-year-old primigravida in her 35th week of a monochorionic-diamniotic twin pregnancy. The patient presented with intrauterine death of both twins accompanied by HELLP syndrome, hypernatremia and hemoconcentration. Urine osmolality below that of the plasma suggested GDI. 1-deamino-8D-arginine vasopressin (dDAVP) treatment was started with a quick response. GDI is probably the result of excessive activity of placental vasopressinase. In cases of liver dysfunction, the clearance rate of vasopressinase decreases, explaining the association of GDI with acute fatty liver and HELLP syndrome. Alert to this diagnosis, its evaluation and treatment is important.

  9. Haemodynamic resistance model of monochorionic twin pregnancies complicated by acardiac twinning

    Energy Technology Data Exchange (ETDEWEB)

    Umur, Asli [Laser Center and Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Amsterdam(Netherlands); Gemert, Martin J C van [Laser Center and Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Amsterdam (Netherlands); Wijngaard, Jeroen P H M van den [Laser Center and Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Amsterdam (Netherlands); Ross, Michael G [Department of Obstetrics and Gynecology, Harbor University of California-Los Angeles Medical Center, Torrence, CA 9050 (United States); Nikkels, Peter G J [Department of Pathology, University Medical Center, Utrecht (Netherlands)

    2004-07-21

    An acardiac twin is a severely malformed monochorionic twin fetus that lacks most organs, particularly a heart. It grows during pregnancy, because it is perfused by its developmentally normal co-twin (called the pump twin) via a set of placental arterioarterial and venovenous anastomoses. The pump twin dies intrauterine or neonatally in about 50% of the cases due to congestive heart failure, polyhydramnios and prematurity. Because the pathophysiology of this pregnancy is currently incompletely understood, we modified our previous haemodynamic model of monochorionic twins connected by placental vascular anastomoses to include the analysis of acardiac twin pregnancies. We incorporated the fetoplacental circulation as a resistance circuit and used the fetal umbilical flow that perfuses the body to define fetal growth, rather than the placental flow as done previously. Using this modified model, we predicted that the pump twin has excess blood volume and increased mean arterial blood pressure compared to those in the acardiac twin. Placental perfusion of the acardiac twin is significantly reduced compared to normal, as a consequence of an increased venous pressure, possibly implying reduced acardiac placental growth. In conclusion, the haemodynamic analysis may contribute to an increased knowledge of the pathophysiologic consequences of an acardiac body mass for the pump twin. (note)

  10. Long-term neurodevelopmental outcome of monochorionic and matched dichorionic twins.

    Directory of Open Access Journals (Sweden)

    Karien E A Hack

    Full Text Available BACKGROUND: Monochorionic (MC twins are at increased risk for perinatal mortality and serious morbidity due to the presence of placental vascular anastomoses. Cerebral injury can be secondary to haemodynamic and hematological disorders during pregnancy (especially twin-to-twin transfusion syndrome (TTTS or intrauterine co-twin death or from postnatal injury associated with prematurity and low birth weight, common complications in twin pregnancies. We investigated neurodevelopmental outcome in MC and dichorionic (DC twins at the age of two years. METHODS: This was a prospective cohort study. Cerebral palsy (CP was studied in 182 MC infants and 189 DC infants matched for weight and age at delivery, gender, ethnicity of the mother and study center. After losses to follow-up, 282 of the 366 infants without CP were available to be tested with the Griffiths Mental Developmental Scales at 22 months corrected age, all born between January 2005 and January 2006 in nine perinatal centers in The Netherlands. Due to phenotypic (unalikeness in mono-or dizygosity, the principal investigator was not blinded to chorionic status; perinatal outcome, with exception of co-twin death, was not known to the examiner. FINDINGS: Four out of 182 MC infants had CP (2.2% - two of the four CP-cases were due to complications specific to MC twin pregnancies (TTTS and co-twin death and the other two cases of CP were the result of cystic PVL after preterm birth - compared to one sibling of a DC twin (0.5%; OR 4.2, 95% CI 0.5-38.2 of unknown origin. Follow-up rate of neurodevelopmental outcome by Griffith's test was 76%. The majority of 2-year-old twins had normal developmental status. There were no significant differences between MC and DC twins. One MC infant (0.7% had a developmental delay compared to 6 DC infants (4.2%; OR 0.2, 95% 0.0-1.4. Birth weight discordancy did not influence long-term outcome, though the smaller twin had slightly lower developmental scores than its

  11. Crown-rump length discordance in the first trimester: a predictor of adverse outcome in twin pregnancies?

    DEFF Research Database (Denmark)

    Johansen, Mathias; Oldenburg, A.; Rosthøj, Susanne;

    2014-01-01

    OBJECTIVES: To evaluate the usefulness of first-trimester crown-rump length (CRL) discordance in predicting adverse outcome in twin pregnancies. METHODS: This retrospective study included a large cohort retrieved from local ultrasound databases at 14 obstetric departments in Denmark, comprising all...... twin pregnancies with two live fetuses scanned between 11 and 14 weeks' gestation during the period 1 January 2004 to 31 December 2006. The association between CRL discordance ≥ 10 % and adverse outcome was evaluated. RESULTS: Among 1993 twin pregnancies, 1733 were dichorionic (156 (9%) discordant......; 1577 (91%) concordant) and 260 were monochorionic (32 (12%) discordant; 228 (88%) concordant). In dichorionic twin pregnancies we found an association between CRL discordance ≥ 10% and preterm delivery before 34 weeks' gestation (P=0.007), birth weight discordance (P=0.001) and mean birth weight (P=0...

  12. Dizygotic monochorionic twin pregnancy conceived following intracytoplasmic sperm injection treatment and complicated by twin-twin transfusion syndrome and blood chimerism

    DEFF Research Database (Denmark)

    Ekelund, C K; Skibsted, L; Søgaard, K

    2008-01-01

    We report a case of a dizygotic monochorionic twin pregnancy preceded by intracytoplasmic sperm injection treatment including assisted hatching. On ultrasound examination at 25 weeks' gestation the twins, which had been assumed to be monochorionic, were found to be of different sexes. Karyotyping...

  13. Modelling the influence of amnionicity on the severity of twin-twin transfusion syndrome in monochorionic twin pregnancies

    Energy Technology Data Exchange (ETDEWEB)

    Wijngaard, Jeroen P H M van den [Laser Center and Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Amsterdam (Netherlands); Umur, Asli [Laser Center and Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Amsterdam (Netherlands); Ross, Michael G [Department of Obstetrics and Gynecology, Harbor University of California-Los Angeles Medical Center, Torrance, CA 90502 (United States); Gemert, Martin J C van [Laser Center and Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Amsterdam (Netherlands)

    2004-03-21

    Clinical treatment for diamniotic-monochorionic twin-twin transfusion syndrome (TTTS) may include conversion of diamniotic pregnancies to a monoamniotic-monochorionic state by disrupting the amnion septum. We sought to test the underlying hypothesis, i.e. that a monoamniotic state reduces the severity of TTTS. With use of our previously developed mathematical model of two equal fetoplacental circulatory units connected by various sizes and types of placental anastomoses, we compared the haemodynamic and amniotic fluid dynamics of monoamniotic and diamniotic twins that develop TTTS. We used three anastomotic patterns that produce severe, moderate or mild forms of TTTS, respectively, in our diamniotic-monochorionic twin model. Monoamnionicity was modelled by adding the two amniotic fluid volumes and using the volume-averaged amniotic fluid osmolality. The results were as follows: for severe TTTS, small differences develop between diamniotic and monoamniotic donor twins in fetal urine production, swallowed volume, blood volume, blood pressures, net fetofetal transfusion, and blood and amniotic fluid osmolality. However, the circulatory imbalance between the monoamniotic twins deteriorates similar to that of diamniotic twins. The pathophysiological differences tend to disappear for milder TTTS. In conclusion, our model suggests that the uncommon finding of TTTS in monoamniotic twins is not due to the presence of a single amniotic sac. Rather, clinically significant differences in anastomotic patterns and the delayed or lack of identification of manifestations in monoamniotic twins account for the reduced rate of TTTS diagnosis. Based on these results we expect the clinical disruption of the amnion septum in diamniotic-monochorionic TTTS pregnancies to have only minimal benefits. (note)

  14. A rare case report of cord entanglement in a post-dated monochorionic monoamniotic twins

    Directory of Open Access Journals (Sweden)

    Kasturi Donimath

    2016-01-01

    Full Text Available Monochorionic Monoamniotic (MCMA twin gestations have been associated perinatal mortality rates as high as 28 to 47%. Umbilical cord entanglements and knots, twin-to-twin transfusion syndrome, congenital anomalies, prematurity and intertwin locking during labour is responsible for their high perinatal morbidity and mortality. We report here a case of Cord entanglement in a post-dated MCMA twin pregnancy without any complications. [Int J Reprod Contracept Obstet Gynecol 2016; 5(1.000: 230-231

  15. Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.

    Science.gov (United States)

    Shotelersuk, V; Tifft, C J; Vacha, S; Peters, K F; Biesecker, L G

    1999-09-17

    The oral-facial-digital syndrome type 1 (OFD1) includes limb, facial, intraoral malformations and the gene for the disorder was recently mapped to Xp22.3-p22.2. We report on monozygotic twin girls discordant for OFD1. Monozygosity is supported by placental pathology (monochorionic diamniotic) and molecular studies with probability of dizygosity twin has oral cavity abnormalities including median cleft lip, cleft palate, lobulated hamartomatous tongue, aberrant hyperplastic oral frenula, alveolar notches, and absent lateral incisors. Facial manifestations include telecanthus, hypoplastic alae nasi, and transient neonatal facial milia. The patient also has short and deviated fingers with partial cutaneous syndactyly. At 10 years, she has not had central nervous system or kidney problems. X-inactivation study revealed similar X-inactivation patterns in the lymphoblasts of both twins. We conclude that skewed X-inactivation is an unlikely cause for the discordance, which is more likely due to a postzygotic mutation in the affected twin.

  16. [Neurodevelopmental Outcomes of Very Preterm or Very Low Birth Weigth Infants: Comparison of Monochorionic and Dichorionic Twins with Singletons].

    Science.gov (United States)

    Taborda, Adelaide; Oliveira, Guiomar

    2016-11-01

    Twins are associated with a delayed development and cerebral palsy. The purpose of this work was to compare the neurologic morbidity in very preterm or very low birth weight dichorionic and monochorionic twins with singletons. We conducted a retrospective cohort study of livebirths lowest through 32 weeks of gestation or very low weight infants admitted to Neonatal Intensive Care Unit of a level III hospital, between 2006 and 2010. Development was evaluated with the Growing Skills II Scale at 24 months of age. Cerebral palsy was defined by predetermined criteria by Surveillance of Cerebral Palsy in Europe. Infants were analyzed as twins and singletons cohort. Within the twin category the infants were further separated as dichorionic and monochorionic and were compared with singletons infants. Logistic regression models were used to control for demographic and clinical factors. The cohort of infants who were assessed for neurodevelopmental impaired, consisted of 194 singletons infants and 89 twins (50 dichorionic; 39 monochorionic). Monochorionic twins, when compared with the singletons, showed an increased risk of severe developmental delay in these areas: locomotion (adjusted OR 12.2) language (adjusted OR 6.5) and autonomy (adjusted OR 7.2). Cerebral palsy was diagnosed in 4.1% of singleton infants and 15.4% of monochorionic twins. The adjusted risk of severe developmental delay and cerebral palsy in monochorionic twins was 3.6 and 4.2, respectively. This work showed higher rate of moderate and severe neurodevelopment delay including cerebral palsy in monochorionic twins compared to singletons infants. Analysis by groups stratified according to gestational age and comparison of monochorionic and dichorionic twins displayed the role of chorionicity for these neurodevelopmental disorders. In our sample the monochorionic twins are associated with an independent risk of neurodevelopmental delay.

  17. Ultrasound predictors of mortality in monochorionic twins with selective intrauterine growth restriction.

    Science.gov (United States)

    Ishii, K; Murakoshi, T; Hayashi, S; Saito, M; Sago, H; Takahashi, Y; Sumie, M; Nakata, M; Matsushita, M; Shinno, T; Naruse, H; Torii, Y

    2011-01-01

    The aim of this study was to evaluate the use of ultrasound assessment to predict risk of mortality in expectantly managed monochorionic twin fetuses with selective intrauterine growth restriction (sIUGR). This was a retrospective study of 101 monochorionic twin pregnancies diagnosed with sIUGR before 26 weeks of gestation. All patients were under expectant management during the observation period. At the initial evaluation, the presence or absence of each of the following abnormalities was documented: oligohydramnios; stuck twin phenomenon; severe IUGR fetuses were evaluated using multiple logistic regression analysis. Of 101 sIUGR twins, 22 (21.8%) fetuses suffered intrauterine demise and nine (8.9%) suffered neonatal death; 70 (69.3%) survived the neonatal period. Multiple logistic regression analysis revealed that the stuck twin phenomenon (odds ratio (OR): 14.5; 95% CI: 2.2-93.2; P = 0.006) and constantly absent diastolic flow in the umbilical artery (OR: 29.4; 95% CI: 3.3-264.0; P = 0.003) were significant risk factors for mortality. Not only abnormal Doppler flow in the umbilical artery but also severe oligohydramnios should be recognized as important indicators for mortality in monochorionic twins with sIUGR.

  18. Digitalization of the mother in treating hydrops fetalis in monochorionic twin with Ebstein's anomaly. Case report.

    Science.gov (United States)

    Koike, T; Minakami, H; Shiraishi, H; Ogawa, S; Matsubara, S; Honma, Y; Sato, I

    1997-01-01

    Hydrops fetalis thought to be due to Ebstein's anomaly was seen at 22 weeks' gestation in one of two fetuses with a monochorionic placenta. Hydrops was treated with maternal digitalization and resolved by the 28th week of gestation. Hydrops did not recur while maternal digitalization continued. A clinical diagnosis of twin-to-twin transfusion syndrome required termination of the pregnancy at 33 weeks of gestation. The twin with Ebstein's anomaly died 22 hours after birth. The other twin survived and was normal at 19 months of age. Thus, administration of digitalis to the mother controlled hydrops fetalis in one fetus, and ultimately led to the survival of the healthy infant.

  19. Preliminary report of altered insulin secretion pattern in monochorionic twin pregnancies complicated with selective intrauterine growth restriction.

    Science.gov (United States)

    Chang, Yao-Lung; Wang, Tzu-Hao; Abufraijeh, Seham M; Chang, Shuenn-Dyh; Chao, An-Shine; Hsieh, Peter C C

    2017-02-01

    Fetuses with intrauterine growth restriction (IUGR) have adaptive hormonal changes including changes in insulin, which may increase their future risks for developing diabetes mellitus. This study compared cord blood insulin concentrations in IUGR and appropriate for gestational age (AGA) fetuses in a monochorionic (MC) twin model. Ten pairs were classified as selective IUGR (sIUGR) based on having one twin weight below the 10th percentile and with an intertwin birth weight discordance>20%. Fourteen pairs without IUGR were included as a comparison group. Pregnancies with twin-twin transfusion syndrome, congenital structural malformations, and genetic abnormalities were excluded. Insulin and glucose concentrations were measured in cord venous blood at the time of delivery. Cord blood insulin concentrations of sIUGR fetuses were significantly lower than those of AGA counterpart fetuses in MC twins affected by sIUGR (5.1±4.1 mU/L, range: 0.7-9.9 mU/L for sIUGR fetuses and 12.2±7.6 mU/L, range: 3.5-23.7 mU/L for AGA fetuses, p=0.019). No significant difference in insulin concentrations between larger and smaller fetuses in MC twins without IUGR was observed. Insulin concentration was inversely correlated with gestational age of delivery in all fetuses except in those with sIUGR. We did not find any difference in cord blood glucose concentrations between the two fetuses in both groups. Our data show reduced insulin secretion and loss of the physiological decline in concentration over time as gestational age increases in fetuses with sIUGR compared to AGA counterparts. Copyright © 2017 Taiwan Association of Obstetrics & Gynecology. Published by Elsevier B.V. All rights reserved.

  20. Arterio-venous flow between monochorionic twins determined during intra-uterine transfusion

    Energy Technology Data Exchange (ETDEWEB)

    Gemert, Martin J C van; Wijngaard, Jeroen P H M van den [Laser Centre and Department of Obstetrics, Laser Center, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam (Netherlands); Lopriore, Enrico [Division of Neonatology, Department of Pediatrics, Leiden University Medical Centre, Leiden (Netherlands); Pasman, Suzanne A; Vandenbussche, Frank P H A [Division of Fetal Medicine, Department of Obstetrics, Leiden University Medical Centre, Leiden (Netherlands)], E-mail: m.j.vangemert@amc.uva.nl

    2008-04-07

    Twin-twin transfusion syndrome (TTTS) is a severe complication of monozygotic (identical) twin fetuses sharing one single (monochorionic) placenta. TTTS is caused by a net inter-twin transfusion of blood through placental anastomoses, from one twin (the donor) to the other (the recipient), which link the two feto-placental circulations. Currently, the only reliable method to measure the net inter-twin transfusion clinically is when incomplete laser therapy of TTTS occurs and one of the twins becomes anemic and requires an intra-uterine transfusion of adult red blood cells. Then, differences between adult hemoglobin concentrations measured during the transfusion and at birth relate not only to the net inter-twin transfusion but also to the finite lifetime of the adult red blood cells. We have analyzed this situation, derived the differential equations of adult hemoglobin in the donor and recipient twins, given the solutions and given expressions relating the net inter-twin flow with clinically measured parameters. We have included single and multiple intra-uterine transfusions. In conclusion, because incomplete laser therapy occurs frequently, and some cases require an intra-uterine transfusion, this method may allow collecting a wealth of net inter-twin flow data from clinicians involved in laser therapy of TTTS. To aid to the widespread use of this method, we have presented the equations as clearly as possible in tables for easy use by others. (note)

  1. NOTE: Arterio-venous flow between monochorionic twins determined during intra-uterine transfusion

    Science.gov (United States)

    van Gemert, Martin J. C.; van den Wijngaard, Jeroen P. H. M.; Lopriore, Enrico; Pasman, Suzanne A.; Vandenbussche, Frank P. H. A.

    2008-04-01

    Twin-twin transfusion syndrome (TTTS) is a severe complication of monozygotic (identical) twin fetuses sharing one single (monochorionic) placenta. TTTS is caused by a net inter-twin transfusion of blood through placental anastomoses, from one twin (the donor) to the other (the recipient), which link the two feto-placental circulations. Currently, the only reliable method to measure the net inter-twin transfusion clinically is when incomplete laser therapy of TTTS occurs and one of the twins becomes anemic and requires an intra-uterine transfusion of adult red blood cells. Then, differences between adult hemoglobin concentrations measured during the transfusion and at birth relate not only to the net inter-twin transfusion but also to the finite lifetime of the adult red blood cells. We have analyzed this situation, derived the differential equations of adult hemoglobin in the donor and recipient twins, given the solutions and given expressions relating the net inter-twin flow with clinically measured parameters. We have included single and multiple intra-uterine transfusions. In conclusion, because incomplete laser therapy occurs frequently, and some cases require an intra-uterine transfusion, this method may allow collecting a wealth of net inter-twin flow data from clinicians involved in laser therapy of TTTS. To aid to the widespread use of this method, we have presented the equations as clearly as possible in tables for easy use by others.

  2. Blood chimerism in dizygotic monochorionic twins during five years observation

    DEFF Research Database (Denmark)

    Dziegiel, Morten Hanefeld; Hansen, Morten Høgh; Haedersdal, Sofie

    2017-01-01

    and again at five years. We found an increase in the proportion of allogeneic cells from 63% to 89% in one twin, and a similar increase in autologous cells in the other twin from 57% to 84%. A paradigm for stem cell therapy could be modelled on this case: induction of tolerance and chimerism by antenatal...

  3. Dizygotic monochorionic twin pregnancy conceived following intracytoplasmic sperm injection treatment and complicated by twin-twin transfusion syndrome and blood chimerism

    DEFF Research Database (Denmark)

    Ekelund, Charlotte Kvist; Skibsted, L.; Søgaard, Kirsten

    2008-01-01

    reported cases of dizygotic monochorionic twins. Nearly all of these cases have been conceived after assisted reproductive technology procedures. It is of clinical importance to be aware of this rare phenomenon in relation to TTTS, prenatal screening and parental counseling Udgivelsesdato: 2008/11...

  4. Cerebral Lesions at Fetal Magnetic Resonance Imaging and Neurologic Outcome After Single Fetal Death in Monochorionic Twins.

    Science.gov (United States)

    Jatzko, Birgit; Rittenschober-Böhm, Judith; Mailath-Pokorny, Mariella; Worda, Christof; Prayer, Daniela; Kasprian, Gregor; Worda, Katharina

    2015-10-01

    Single fetal death (sFD) in monochorionic twin pregnancies is associated with substantial morbidity and mortality in the survivor. The aim of our study was to evaluate the rate of cerebral lesions detected at fetal Magnetic Resonance Imaging (MRI) and to correlate the results with the neurologic outcome of the survivors of monochorionic twin pregnancies after sFD. Between 2005 and 2012, 11 monochorionic twin pregnancies with sFD and subsequent fetal MRI of the survivor were included. All neonates underwent neurologic assessment after birth and 56% of surviving infants underwent long-term neurologic assessment. MRI findings and neurologic outcome of the survivors were evaluated. Gestational age at sFD was 20.9 (±2.9) weeks; 55% (6/11) of survivors of monochorionic twin pregnancies after sFD showed cerebral lesions at fetal MRI; 72% (8/11) of all survivors had normal neonatal neurologic outcome: all survivors with normal fetal MRI and 50% of survivors with cerebral lesions at fetal MRI. Long-term neurologic assessment was normal in all tested patients with normal fetal MRI and in one of three tested patients with cerebral lesions at fetal MRI. Survivors of monochorionic twin pregnancies after sFD show a high rate of cerebral lesions at fetal MRI. The importance of cerebral lesions at fetal MRI in survivors after sFD in monochorionic twin pregnancies is uncertain. All tested survivors with normal fetal MRI showed normal neurologic outcome but only one of three survivors with cerebral lesions at fetal MRI showed normal long-term neurologic outcome.

  5. Perinatal outcome after first-trimester risk assessment in monochorionic and dichorionic twin pregnancies

    DEFF Research Database (Denmark)

    Kristiansen, Mona Kjærbøl; Joensen, BS; Ekelund, CK

    2015-01-01

    .8% for DC, MCDA and MCMA twins, respectively (P death of one fetus after week 22 was higher in MCDA twins than DC twins 1.7% versus 0.6% (P neonatal death. CONCLUSIONS: The risk of spontaneous loss of both fetuses......) pregnancies and 15.7% monochorionic (MC) pregnancies (15% diamniotic [MCDA] and 0.7% monoamniotic [MCMA]). METHODS: A cohort study based on data collected from the Danish Fetal Medicine Database from July 2008 to July 2011. MAIN OUTCOME MEASURES: Fetal loss rate before week 22, intrauterine death rate from...... week 22 to birth, and neonatal mortality. RESULTS: Significantly more DC than MC pregnancies resulted in at least one live born infant-98.2% versus 92.3% in MCDA (P

  6. Conservative treatment for interstitial monochorionic twin pregnancy: case report and review of the published work.

    Science.gov (United States)

    Berretta, Roberto; Merisio, Carla; Dall'Asta, Andrea; Verrotti, Carla; Rolla, Martino; Bruni, Stefano; Bacchi Modena, Alberto

    2014-03-01

    Interstitial pregnancy is considered one of the most hazardous types of ectopic pregnancies, with a mortality rate of 2-2.5%. We describe a case of a viable monochorionic twin pregnancy in a 35-year-old woman successfully treated with systemic methotrexate associated with bilateral uterine arteries' embolization. β-hCG was undetectable 67 days after the first administration of methotrexate and the ultrasonography performed on day 67 showed the remnant of the gestational sac in the right uterine horn, a thin endometrium and a normal myometrial vascularization. Conservative treatment allowed us to avoid surgical treatment and to preserve the patient's fertility.

  7. Dichorionic twin pregnancy discordant for fetal anencephaly: a case report.

    Science.gov (United States)

    Taşcı, Yasemin; Karasu, Yetkin; Erten, Ozlem; Karadağ, Burak; Göktolga, Umit

    2012-01-01

    Dichorionic twin pregnancy discordant for fetal anencephaly is a serious condition that threatens the normal co-twin's life by causing polyhydramniosis, preterm labor and sudden death of one or both of the fetuses. We report a case of dichorionic twin pregnancy discordant for fetal anencephaly delivered at the 32(nd) week of gestation because of preterm labor and nonreassuring fetal monitoring. The aim of this case report is to summarize management options in this situation.

  8. RISK OF LATE PRETERM STILLBIRTH AND NEONATAL MORBIDITY FOR MONOCHORIONIC AND DICHORIONIC TWINS

    Science.gov (United States)

    BURGESS, Jennifer L.; UNAL, Elizabeth R.; NIETERT, Paul J.; NEWMAN, Roger B.

    2014-01-01

    Objectives To determine the prospective risk of IUFD ≥ 34 weeks’ gestation for monochorionic (MC) and dichorionic (DC) twins receiving intensive antenatal fetal surveillance. The secondary objective is to calculate the incidence of prematurity-related neonatal morbidity/mortality, stratified by gestational week and chorionicity. Study Design A retrospective cohort study of all twins ≥ 34 weeks delivered at MUSC (1987–2010) was performed. Twins were cared for in a longstanding Twin Clinic with standardized management and surveillance protocols; supervised by a consistent Maternal-Fetal Medicine specialist. Gestational age specific fetal/neonatal mortality and composite neonatal morbidity rates were compared by chorionicity. A generalized linear mixed model was used to identify variables associated with increased composite neonatal morbidity. Results Among 768 twin gestations (601 DC and 167 MC), only one dichorionic IUFD occurred. The prospective risk of IUFD ≥34 weeks was 0.17% for DC twins and 0% for MC twins. Composite neonatal morbidity decreased with each gestational week (p<0.0001). Morbidity was increased by white race, gestational diabetes and elective indication for delivery. The nadir of composite neonatal morbidity occurred at 36/0-36/6 weeks for MC twins and 37/0-37/6 weeks for DC twins. Conclusions Our data do not support concern for an increased risk of stillbirth in uncomplicated intensively managed MC twins ≥34 weeks’ gestation. However, our data do show significantly increased rates of neonatal morbidity in late preterm MC twins that cannot be justified by a corresponding reduction in the risk of stillbirth. We feel that our data support delivery of uncomplicated MC twins at 37 weeks’ gestation. PMID:24607757

  9. Adult glucose metabolism in extremely birthweight-discordant monozygotic twins

    DEFF Research Database (Denmark)

    Frost, M; Petersen, I; Brixen, K

    2012-01-01

    Low birthweight (BW) is associated with increased risk of type 2 diabetes. We compared glucose metabolism in adult BW-discordant monozygotic (MZ) twins, thereby controlling for genetic factors and rearing environment.......Low birthweight (BW) is associated with increased risk of type 2 diabetes. We compared glucose metabolism in adult BW-discordant monozygotic (MZ) twins, thereby controlling for genetic factors and rearing environment....

  10. Cognitive function in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Christensen, Maj Vinberg; Kyvik, Kirsten Ohm; Kessing, Lars Vedel

    2006-01-01

    is associated with cognitive impairment. METHOD: In a cross-sectional high-risk case-control study, healthy monozygotic (MZ) and dizygotic (DZ) twins with (High-Risk twins) and without (the control group/Low-Risk twins) a co-twin history of affective disorder were identified through nationwide registers....... Cognitive performance of 203 High-Risk and Low-Risk twins was compared. RESULTS: Healthy twins discordant for unipolar disorder showed lower performance on almost all measures of cognitive function: selective and sustained attention, executive function, language processing and working and declarative memory......, and also after adjustment for demographic variables, subclinical symptoms and minor psychopathology. Healthy twins discordant for bipolar disorder showed lower performance on tests measuring episodic and working memory, also after adjustment for the above-mentioned covariables. The discrete cognitive...

  11. Twin birth order, birthweight and birthweight discordance: any relationship

    Directory of Open Access Journals (Sweden)

    Onyiriuka A.N.

    2010-12-01

    Full Text Available Background: It is widely believed that in twin pairs, at birth, the first-born weigh more than the second-born but this concept has been challenged. Objective: To assess the truthfulness of this common concept that first-born twins are usually heavier than their second-born siblings at birth. Methods: In a series of 104 sets of live-born twins, the birth weights of first-born twins were compared with those of their second-born siblings, after controlling for gender. Their intra-pair birthweight differences were determined and twin pairs whose birthweight difference was 15% or more were designated as discordant. Results: Twin I was heavier than Twin II in 61.5% of cases while Twin II was heavier than Twin I in 28.9% of cases. Twins I and II had equal birthweights in 9.6% of cases. Comparing the mean birthweight of the first-born-male twin with that of second-born- male twin, it was 2515+427g (95% Confidence Interval, CI=2402-2628 versus 2432 +435g (95% CI=2321-2543 p>0.05. The mean birthweight of first-born-female twin was 2326+445g (95% CI=2214-2439 while that of the second-born-female twin was 2325+501g (95% CI=2197-2453 p>0.05. When the birthweight difference exceeded 750g, the probability that Twin I will be heavier than Twin II was 83.3% (5 of 6. Conclusion: Although the first-born twin was more often heavier than their second-born siblings, either could weigh more or less at birth. The larger the birthweight difference between growth-discordant twin pair, the greater the probability that the heavier twin would be delivered first

  12. Diagnosis of umbilical cord entanglement in a monochorionic diamniotic twin pregnancy with spontaneous septostomy of the dividing membranes using dual-gate Doppler imaging.

    Science.gov (United States)

    Ito, Ayumu; Nakata, Masahiko; Oji, Ayako; Takano, Mayumi; Umemura, Nahomi; Nagasaki, Sumito; Maemura, Toshimitsu; Morita, Mineto

    2017-05-08

    Umbilical cord entanglement is the leading cause of fetal mortality in monoamniotic twin pregnancies and a pseudo monoamniotic environment. Published methods for detecting this complication include color Doppler and pulsed Doppler sonography; however, no method provides an absolute diagnosis. In this case, we report the diagnosis of umbilical cord entanglement using dual-gate Doppler imaging. A 35-year-old woman was referred to our hospital at 28 weeks of gestation for prenatal management because of diagnosis of a monochorionic diamniotic twin pregnancy with spontaneous septostomy of the dividing membranes. Each fetus displayed normal fetal growth without obvious discordance and anatomical abnormalities. However, the dividing membrane was not detected, and an entangled cord was suspected. Dual-gate Doppler examination was carried out. Two regions of interest were considered at different areas of the umbilical arteries, and when each Doppler image showed two different heart rates at the same time, we considered this to be evidence of umbilical cord entanglement. Cesarean section was performed at 32 weeks of gestation and twins were delivered. The delivered umbilical cords had sixfold entanglement. In this case, dual-gate Doppler seems to have been more accurate than conventional single-gate Doppler for the diagnosis of cord entanglement because we confirmed two different heart rates at the same time with dual-gate Doppler.

  13. Epigenetic signature of birth weight discordance in adult twins

    DEFF Research Database (Denmark)

    Tan, Qihua; Nielsen, Morten Frost Munk; Heijmans, Bastiaan T

    2014-01-01

    Background: A low birth weight has been extensively related to poor adult health outcomes. Birth weight can be seen as a proxy for environmental conditions during prenatal development. Identical twin pairs discordant for birth weight provide an extraordinary model for investigating the association...... between birth weight and adult life health while controlling for not only genetics but also postnatal rearing environment. We performed an epigenome-wide profiling on blood samples from 150 pairs of adult monozygotic twins discordant for birth weight to look for molecular evidence of epigenetic signatures...... in association with birth weight discordance. Results: Our association analysis revealed no CpG site with genome-wide statistical significance (FDR twin...

  14. Impact of Monochorionicity and Twin to Twin Transfusion Syndrome on Prenatal Attachment, Post Traumatic Stress Disorder, Anxiety and Depressive Symptoms.

    Science.gov (United States)

    Beauquier-Maccotta, Berengere; Chalouhi, Gihad E; Picquet, Anne-Laure; Carrier, Aude; Bussières, Laurence; Golse, Bernard; Ville, Yves

    2016-01-01

    Monochronioric (MC) twin pregnancies are considered as high-risk pregnancies with potential complications requiring in-utero interventions. We aimed to assess prenatal attachment, anxiety, post-traumatic stress disorder (PTSD) and depressive symptoms in MC pregnancies complicated with Twin-To-Twin-transfusion syndrome (TTTS) in comparison to uncomplicated monochorionic (UMC) and dichorionic pregnancies (DC). Auto-questionnaires were filled out at diagnosis of TTTS and at successive milestones. Prenatal attachment, PTSD, anxiety and perinatal depression were evaluated respectively by the Prenatal Attachment Inventory (PAI) completed for each twin, the Post-traumatic Checklist Scale (PCLS), the State-Trait Anxiety Inventory (STAI) and the Edinburgh Perinatal Depression Scale (EPDS). There was no significant difference in the PAI scores between the two twins. In the DC and UMC groups, PAI scores increased throughout pregnancy, whilst it didn't for TTTS group. TTTS and DC had a similar prenatal attachment while MC mothers expressed a significantly higher attachment to their fetuses and expressed it earlier. At the announcement of TTTS, 72% of the patients present a score over the threshold at the EPDS Scale, with a higher score for TTTS than for DC (p = 0.005), and UMC (p = 0.007) at the same GA. 30% of mothers in TTTS group have PTSD during pregnancy. 50% of TTTS- patients present an anxiety score over the threshold (STAI-Scale), with a score significantly higher in TTTS than in UMC (pPTSD, high level of anxiety and an alteration of the prenatal attachment. These results should guide the psychological support provided to these patients.

  15. Perinatal risk factors and neonatal complications in discordant twins admitted to the neonatal intensive care unit

    Institute of Scientific and Technical Information of China (English)

    ZHANG Xiao-rui; LIU Jie; ZENG Chao-mei

    2013-01-01

    Background Many studies have shown a relationship between birth weight discordance and adverse perinatal outcomes.This study aimed to investigate the perinatal risk factors and neonatal complications of discordant twins who are admitted to the neonatal intensive care unit.Methods A total of 87 sets of twins were enrolled in this retrospective study,of which 22 sets were discordant twins and 65 sets were concordant twins.Binary Logistic regression analysis was used to identify the risk factors associated with the occurrence of discordant twins.The common neonatal complications of discordant twins were also investigated.Results Multivariate analysis showed that the use of assisted reproductive techniques,pregnancy-induced hypertension,and unequal placental sharing were risk factors for the occurrence of discordant twins.The incidence of small for gestational age infants and very low birth weight infants of discordant twins was significantly higher,while the birth weight of discordant twins was significantly lower than those of concordant twins.The duration of hospitalization of discordant twins was longer than that of concordant twins.The incidence of several neonatal complications,such as neonatal respiratory distress syndrome and intracranial hemorrhage,was higher in discordant twins than that in concordant twins.The percentage of those requiring pulmonary surfactant and mechanical ventilation was significantly higher in discordant twins than that in concordant twins.Conclusions Use of assisted reproductive techniques,pregnancy-induced hypertension,and unequal placental sharing are perinatal risk factors of discordant twins who are admitted to the neonatal intensive care unit.These infants are also much more likely to suffer from various neonatal complications,especially respiratory and central nervous system diseases.It is important to prevent the occurrence of discordant twins by decreasing these risk factors and timely treatment should be given to discordant

  16. Methylomic analysis of monozygotic twins discordant for childhood psychotic symptoms

    Science.gov (United States)

    Fisher, Helen L; Murphy, Therese M; Arseneault, Louise; Caspi, Avshalom; Moffitt, Terrie E; Viana, Joana; Hannon, Eilis; Pidsley, Ruth; Burrage, Joe; Dempster, Emma L; Wong, Chloe C Y; Pariante, Carmine M; Mill, Jonathan

    2015-01-01

    Childhood psychotic symptoms are associated with increased rates of schizophrenia, other psychiatric disorders, and suicide attempts in adulthood; thus, elucidating early risk indicators is crucial to target prevention efforts. There is considerable discordance for psychotic symptoms between monozygotic twins, indicating that child-specific non-genetic factors must be involved. Epigenetic processes may constitute one of these factors and have not yet been investigated in relation to childhood psychotic symptoms. Therefore, this study explored whether differences in DNA methylation at age 10 were associated with monozygotic twin discordance for psychotic symptoms at age 12. The Environmental Risk (E-Risk) Longitudinal Twin Study cohort of 2,232 children (1,116 twin pairs) was assessed for age-12 psychotic symptoms and 24 monozygotic twin pairs discordant for symptoms were identified for methylomic comparison. Children provided buccal samples at ages 5 and 10. DNA was bisulfite modified and DNA methylation was quantified using the Infinium HumanMethylation450 array. Differentially methylated positions (DMPs) associated with psychotic symptoms were subsequently tested in post-mortem prefrontal cortex tissue from adult schizophrenia patients and age-matched controls. Site-specific DNA methylation differences were observed at age 10 between monozygotic twins discordant for age-12 psychotic symptoms. Similar DMPs were not found at age 5. The top-ranked psychosis-associated DMP (cg23933044), located in the promoter of the C5ORF42 gene, was also hypomethylated in post-mortem prefrontal cortex brain tissue from schizophrenia patients compared to unaffected controls. These data tentatively suggest that epigenetic variation in peripheral tissue is associated with childhood psychotic symptoms and may indicate susceptibility to schizophrenia and other mental health problems. PMID:26479702

  17. Mitochondrial DNA Copy Number in Sleep Duration Discordant Monozygotic Twins

    DEFF Research Database (Denmark)

    Wrede, Joanna E; Mengel-From, Jonas; Buchwald, Dedra

    2015-01-01

    STUDY OBJECTIVES: Mitochondrial DNA (mtDNA) copy number is an important component of mitochondrial function and varies with age, disease, and environmental factors. We aimed to determine whether mtDNA copy number varies with habitual differences in sleep duration within pairs of monozygotic twins....... SETTING: Academic clinical research center. PARTICIPANTS: 15 sleep duration discordant monozygotic twin pairs (30 twins, 80% female; mean age 42.1 years [SD 15.0]). DESIGN: Sleep duration was phenotyped with wrist actigraphy. Each twin pair included a "normal" (7-9 h/24) and "short" (sleeping...... twin. Fasting peripheral blood leukocyte DNA was assessed for mtDNA copy number via the n-fold difference between qPCR measured mtDNA and nuclear DNA creating an mtDNA measure without absolute units. We used generalized estimating equation linear regression models accounting for the correlated data...

  18. Chorioamniotic membrane separation after fetoscopy in monochorionic twin pregnancy: incidence and impact on perinatal outcome.

    Science.gov (United States)

    Ortiz, J U; Eixarch, E; Peguero, A; Lobmaier, S M; Bennasar, M; Martinez, J M; Gratacós, E

    2016-03-01

    To evaluate the incidence of chorioamniotic membrane separation (CMS) after fetoscopy in monochorionic diamniotic (MCDA) twins and its impact on pregnancy outcome. The study group comprised a consecutive series of 338 women with an MCDA pregnancy complicated by twin-twin transfusion syndrome (TTTS) or selective intrauterine growth restriction (sIUGR) treated with selective laser photocoagulation of communicating vessels (SLPCV) or cord occlusion (CO). Data obtained included cervical length, gestational age at procedure, type and duration of surgery and placental location. The incidence of CMS, the rates of miscarriage and preterm prelabor rupture of membranes (PPROM), gestational age at delivery and neonatal survival were recorded. Of the study population of MCDA pregnancies, 270 (79.9%) had TTTS and 68 (20.1%) had sIUGR. SLPCV was performed in 252 (74.6%) cases and CO in 86 (25.4%). Postoperative CMS was observed in 70 (20.7%) cases. Patients with CMS had higher rates of miscarriage (14.3% vs 7.1%; P = 0.049), PPROM before 32 weeks (43.3% vs 13.7%; P < 0.001) and preterm delivery before 32 weeks (53.3% vs 26.1%; P < 0.001) and a lower rate of neonatal survival of at least one twin (81.7% vs 93.6%; P = 0.003). Multivariate analysis showed that gestational age at surgery was the only independent predictor, with the highest proportion of CMS occurring in cases that underwent surgery before 18 weeks' gestation (odds ratio, 2.941 (95% CI, 1.640-5.275); P < 0.001). There was no influence of cervical length, placental location, duration of surgery or type of surgery on the risk of CMS. CMS complicated one-fifth of all MCDA pregnancies that underwent fetoscopy. It appeared to be more common in those who underwent surgery before 18 weeks' gestation and was associated with poorer outcomes. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

  19. Prenatal diagnosis of heterokaryotypic mosaic twins discordant for fetal sex.

    Science.gov (United States)

    Schmid, O; Trautmann, U; Ashour, H; Ulmer, R; Pfeiffer, R A; Beinder, E

    2000-12-01

    The presence of a monozygotic twin gestation with discordant sex of the twins is a very rare constellation, which is referred to as heterokaryotypic monozygotic pregnancy. This constellation can develop either due to a chromosomal aberration after twinning or is - as in the following case - due to a mitotic error before twinning and an unequal distribution of mosaicism in both embryos. So far the diagnosis of heterokaryotypic monozygotic pregnancy has always been made postnatally, with only one exception (Gonsoulin et al., 1990). In this case we suspected the presence of monozygotic twins ultrasonically because of the chorionic and amniotic membrane characteristics. Surprisingly the sex of the fetuses was discrepant. As one of them had hydrops and a structural heart defect, we carried out an amniocentesis, which revealed mosaicism [45,X/46,X,i(Y)(p10)] of both fetuses. The female fetus with a predominant 45,X set of chromosomes and the typical intrauterine signs of the Ullrich-Turner syndrome (massive hygroma colli, hydrops fetalis and multiple cardiac defects) died during the 25th week of gestation due to cardiac decompensation. The other fetus appeared to be male with a predominance of a 46,X,i(Y)(p10) set of chromosomes and was born a few days after the intrauterine death of the hydropic fetus. In conclusion, our observation shows that ultrasonic evidence of discordant fetal sex in twins does not necessarily exclude monozygosity. Copyright 2000 John Wiley & Sons, Ltd.

  20. Does amniotic fluid volume affect fetofetal transfusion in monochorionic twin pregnancies? Modelling two possible mechanisms

    Science.gov (United States)

    Umur, Asli; van Gemert, Martin J. C.; Ross, Michael G.

    2002-06-01

    Clinical evidence suggests that increased amniotic fluid volume due to polyhydramnios increases placental vascular resistance. We have sought to model the possible effects of an increased amniotic fluid volume on the net fetofetal transfusion in monochorionic twin pregnancies. We wanted to compare these effects with the results of previous simulations, which aimed to explain why the twin-twin transfusion syndrome (TTTS) placentas more often include bidirectional arteriovenous (AV) rather than AV plus arterioarterial (AA) anastomoses. We extended our mathematical model of TTTS by simulating two different mechanisms that increase the placental vascular resistance as a consequence of polyhydramnios. First, there is an increase in the placental capillary resistance and hence in deep AV and opposite AV (denoted as VA) resistances due to polyhydramnios. Second, there is an increase in the resistance of chorionic veins due to polyhydramnios, assuming that these veins act as Starling resistors. We then simulated the effects of polyhydramnios on different placental anastomotic patterns. The results were as follows. In the first mechanism (polyhydramnios affects AV-VA resistances), an increased amniotic fluid volume hardly affected bidirectional AV, but slightly decreased fetofetal transfusion in AV plus AA anastomoses. However, for these effects to change the natural development of the pregnancy, polyhydramnios needed to persist for approximately 4 weeks, and by comparing the effects of polyhydramnios with the effects of amnioreduction, amnioreduction was more beneficial for normalizing the donor amniotic fluid volume. Therefore, these beneficial effects due to polyhydramnios have no practical clinical significance. In the second mechanism (Starling resistor for chorionic veins), polyhydramnios slightly increased fetofetal transfusion and hence slightly increased TTTS severity in bidirectional AV and AV plus VV, but did not affect AV plus AA anastomoses. In conclusion, we

  1. Dicephalus parapagus conjoined twins discordant for anencephaly: a case report

    Directory of Open Access Journals (Sweden)

    Udo Jacob J

    2010-02-01

    Full Text Available Abstract Introduction Cases of conjoined twins occur so rarely that it is important to learn as much as possible from each case. Case presentation We present a case of 9-hour-old, female, Nigerian dicephalus parapagus conjoined twins discordant for anencephaly diagnosed only after the birth of the twins. The anencephalic twin was stillborn while the normal one died within 9 hours of birth from cardiopulmonary failure. Conclusion Many congenital defects of interest can now be detected before birth. A severe lesion such as that found in our index case, which is incompatible with postnatal life, requires counselling. If detected early enough during a properly monitored antenatal care, it may indicate termination of pregnancy.

  2. Oliver Sacks: Our Correspondence About Twins/Twin Research: Vanishing Twins Syndrome; Discordant Sex in MZ Twins; Pregnancy Outcomes in IVF and ICSI Conceived Twins/Print and Media: Superfetated Twins; Twins Discordant for Smoking; Twins in Fashion; Yale University Twin Hockey Players; Conjoined Twin-Visiting Professor.

    Science.gov (United States)

    Segal, Nancy L

    2017-08-01

    The late neurologist and author, Oliver Sacks, published an insightful 1986 review of Marjorie Wallace's book, The Silent Twins, in the New York Times. Taking exception to his assertion about Sir Francis Galton, I wrote a letter to the Times' editor. The letter was unpublished, but it brought a wonderful response from Sacks himself that is reproduced and examined. Next, brief reviews of twin research concerning the vanishing twin syndrome (VTS), discordant sex in a monozygotic (MZ) twin pair, and multiple pregnancy outcomes from assisted reproductive technology (ART) are presented. This section is followed by popular coverage of superfetated twins, smoking-discordant co-twins, twins in fashion, Yale University twin hockey players, and a visiting professor who was a conjoined twin.

  3. Ductus venosus in the first trimester: contribution to screening of chromosomal, cardiac defects and monochorionic twin complications.

    Science.gov (United States)

    Maiz, Nerea; Nicolaides, Kypros H

    2010-01-01

    In the first trimester the ductus venosus can be easily identified with color Doppler and a ductus venosus waveform can be obtained by pulsed Doppler. At 11-13 weeks the prevalence of abnormal a-wave in the ductus venosus is inversely related to fetal crown-rump length and maternal serum pregnancy-associated plasma protein-A (PAPP-A), increases with fetal nuchal translucency (NT) thickness and is more common in women of Black racial origin and in fetuses with abnormal karyotype or cardiac defects. Ductus venosus flow provides an independent contribution in the prediction of chromosomal abnormalities when combined with NT and the maternal serum markers of PAPP-A and free beta-hCG, increasing the detection rate to 96% at a false-positive rate of 2.6%. Abnormal ductus venosus flow increases the risk of cardiac defects in fetuses with NT above the 95th centile, and it may increase the risk in fetuses with normal NT. In twin pregnancies, abnormal ductus venosus flow is associated with chromosomal abnormalities and cardiac defects. In monochorionic twins, abnormal flow in the ductus venosus in at least 1 of the fetuses increases the risk of developing twin-to-twin transfusion syndrome. Copyright (c) 2010 S. Karger AG, Basel.

  4. A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210

    Directory of Open Access Journals (Sweden)

    K. N. Venkateshwara Prasad

    2013-01-01

    Full Text Available Goldenhar syndrome is a rare developmental disorder characterised by hemifacial microsomia, epibulbar tumours, ear malformation, and vertebral anomalies. As monozygotic (MZ twins are believed to be genetically identical, discordance for disease phenotype between MZ twins varies with craniofacial anomalies, cardiac, vertebral, and central nervous system defects sporadically. We report a case of monozygotic female twins discordant for Goldenhar syndrome with hemifacial microsomia and the dysplasia of auricular pinna.

  5. Search for Genomic Alterations in Monozygotic Twins Discordant for Cleft Lip and/or Palate

    DEFF Research Database (Denmark)

    Kimani, Jane W; Yoshiura, Koh-Ichiro; Shi, Min

    2009-01-01

    consisting of 1,536 SNPs, to scan for genomic alterations in a sample of monozygotic twin pairs with discordant cleft lip and/or palate phenotypes. Paired analysis for deletions, amplifications and loss of heterozygosity, along with sequence verification of SNPs with discordant genotype calls did not reveal...... any genomic discordance between twin pairs in lymphocyte DNA samples. Our results demonstrate that postzygotic genomic alterations are not a common cause of monozygotic twin discordance for isolated cleft lip and/or palate. However, rare or balanced genomic alterations, tissue-specific events...

  6. Learning and memory in monozygotic twins discordant for schizophrenia.

    Science.gov (United States)

    Goldberg, T E; Torrey, E F; Gold, J M; Ragland, J D; Bigelow, L B; Weinberger, D R

    1993-02-01

    Learning and memory were assessed in 24 monozygotic (MZ) pairs of individuals discordant for schizophrenia or delusional disorder and seven normal pairs of MZ twins. On declarative memory tasks, the affected group displayed a pattern that might best be characterized as dysmnesic in that they performed significantly worse than the discordant unaffected group on story recall, paired associated learning, and visual recall of designs, but they learned over time, had relatively preserved recognition memory, and did not show profoundly accelerated rates of forgetting. Effortful, volitional retrieval from the lexicon, measured by verbal fluency, was also compromised in the affected group. On the other hand, procedural learning of the motor skill in a pursuit rotor task was relatively intact in the affected group. Comparisons of the normal group and unaffected group indicated that the latter group had very mild impairments in some aspects of episodic memory, namely, immediate and delayed recall of stories and delayed recall of designs. It is highly unlikely that the impairments observed in the affected group can be attributed to differences in genome, family environment, socioeconomic circumstance, or educational opportunity, as all of these were controlled by the twin paradigm. Rather, the impairments appear to be related to the intercession of disease. The neuropsychological profile is consistent with frontal lobe and medial temporal lobe dysfunction, as noted in this sample as well as other samples of schizophrenic singletons. Significant correlations between many measures of memory and global level of social and vocational functioning within the discordant group were also found. Thus difficulties in rapidly acquiring new information and propitiously retrieving old information may burden patients with schizophrenia in many of the transactions of everyday life.

  7. Selective termination in dichorionic twins discordant for congenital defect.

    Science.gov (United States)

    Alvarado, Eugenia Antolín; Pacheco, Ricardo Pérez Fernández; Alderete, Francisco Gámez; Luís, Juán Antonio de León; de la Cruz, Angel Aguarón; Quintana, Luís Ortiz

    2012-03-01

    To evaluate the perinatal outcome of selective termination in dichorionic twins discordant for congenital defect, performed at the Hospital General Universitario Gregorio Marañon. Twenty-eight dichorionic twins with an anomalous fetus were included from May 2008 to February 2011. Intracardiac KCl (1-2 ml; 15 mEq/ml) under ultrasonographic guidance was used in all procedures. Congenital defect, gestational age at the procedure, incidence and perinatal outcome were retrieved. Selective termination was performed in 14 (50%) cases of structural defects with normal karyotype and in 14 (50%) cases of chromosomal abnormality, 13 of them (92.8%) trisomy 21. Median gestational age at the procedure was 17.8 weeks (range 14.5-24; SD 2.3), and 12 (42.8%) were performed before 18 weeks. The presenting fetus was terminated in 11 cases (39.3%). Selective termination was followed by the subsequent delivery of a viable infant in 27 out of 28 cases (96.4%). Fetal loss before 24 weeks occurred in 1 case (3.6%). Median gestational age at delivery was 38 weeks (range 24.1-40.1; SD 3.8). Twenty-four (88.9%) were delivered >34 weeks and 1 (3.7%) before 28 weeks. Selective termination in dichorionic twins discordant for congenital defect is a safe procedure with low risk of unintended fetal loss. This option is a reasonable alternative to expectant management or termination of the whole pregnancy. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  8. Vascular programming in twins: the effects of chorionicity and fetal therapy for twin-to-twin transfusion syndrome.

    Science.gov (United States)

    Gardiner, H M; Barlas, A; Matsui, H; Diemert, A; Taylor, M J O; Preece, J; Gordon, F; Greenwald, S E; Hecher, K

    2012-06-01

    We assessed vascular programming in genetically identical monochorionic twin pairs with twin-to-twin transfusion syndrome (TTTS) treated differently in utero by serial amnioreduction or fetal laser arterial photocoagulation. This case-control study re-assessed four twin groups at median 11 years comprising 20 pairs of monochorionic diamniotic twins: nine treated by amnioreduction (TTTS-amnio) and eleven by laser (TTTS-laser) with seven monochorionic and six dichorionic control pairs. Outcome measures were current blood pressure (BP), brachio-radial arterial stiffness derived from pulse wave velocity (PWV), resting microcirculation (Flux) and response to heating and post-occlusive reactive hyperaemia measured using laser Doppler. Potential confounders [PWV and BP at first study, current height, weight, heart rate and twin type (ex-recipient, ex-donor or heavier/lighter of pair)] were accounted for by Mixed Linear Models statistical methodology. PWV dichorionic > monochorionic (P = 0.024); systolic and diastolic BP dichorionic > TTTS-amnio and TTTS-laser (P = 0.004, P = 0.02 and P = 0.005, P = 0.02, respectively). Within-twin pair pattern of PWV discordance was similar in laser treated and dichorionic controls (heavier-born > lighter), opposite to TTTS-amnio and monochorionic controls. Flux monochorionic > dichorionic (P = 0.044) and heavier > lighter-born (P = 0.024). TTTS-laser and dichorionic diamniotic showed greatest hyperaemic responses (dichorionic > TTTS-amnio or monochorionic controls (P = 0.007, P = 0.025). Hyperaemic responses were slower in heavier-born twins (P = 0.005). In summary, monochorionic twins had lower BP, arterial stiffness and increased resting vasodilatation than dichorionic twins implying shared fetal circulation affects vascular development. Vascular responses in laser-TTTS were similar to dichorionic and opposite to TTTS-amnio suggesting a lasting effect of fetal therapy on vascular health.

  9. What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration

    NARCIS (Netherlands)

    Ketelaar, M. E.; Hofstra, R. M. W.; Hayden, M. R.

    2012-01-01

    As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins has been used in genetic research to understand the contribution of genetic vs environmental factors in disease development. However, recent studies show that MZ twins can differ bo

  10. A case of a surviving co-twin diagnosed with porencephaly and renal hypoplasia after a single intrauterine fetal death at 21 weeks of gestation in a monochorionic monoamniotic twin pregnancy.

    Science.gov (United States)

    Machino, Hidenori; Iriyama, Takayuki; Nakayama, Toshio; Komatsu, Atsushi; Nagamatsu, Takeshi; Osuga, Yutaka; Fujii, Tomoyuki

    2017-01-01

    Monochorionic monoamniotic (MM) twin pregnancy carries a high risk of intrauterine fetal death (IUFD). Single IUFD in an MM twin pregnancy prior to 22 weeks of gestation has been reported to be strongly correlated with double twin demise. To our knowledge, there are no case reports on the natural course of a surviving co-twin in an MM twin pregnancy resulting in live birth after a single IUFD prior to 22 weeks of gestation. Here, we report a case of a surviving co-twin, after a single IUFD at 21 weeks of gestation in a MM twin pregnancy, with an antenatal diagnosis of renal hypoplasia and severe neurological damage leading to porencephaly, and live birth at 36 weeks of gestation.

  11. 产前超声监测羊水量不均衡双胎妊娠的临床价值%Value of prenatal surveillances of ultrasonography in twin pregnancies with amniotic fluid discordance

    Institute of Scientific and Technical Information of China (English)

    刘涛; 吴瑛; 王慧芳; 谭喜平; 甘晗靖; 林琪; 焦阳; 熊奕; 姜燕; 张辉

    2010-01-01

    Objective To evaluate the values of prenatal surveillances of ultrasonography in twin pregnancies with amniotic fluid discordance. Methods Two hundred and seventy cases of diamniotic twins were included. Both postnatal outcomes and prenatal amniotic fluid discordant variations were analyzed,and the incidences of amniotic fluid discordance were compared between the monochorionic-diamniotic(MCDA)and dichorionic-diamniotic (DCDA) gruop. Results Twenty four cases of twins with amniotic fluid discordance were found in the study. The incidence of amniotic fluid discordance in MCDA group was much higher than that in DCDA group (28.9% vs 5.6%, P <0. 001 ) ,and 24 cases of twin-to-twin transfusion syndrome (TTTS) were diagnosed in the former group and none were found in the latter group. Downward tendency of amniotic fluid discordance was shown in non-TTTS cases of MCDA group. Compared with TTTS cases, the postnatal outcomes of non-TTTS cases with amniotic fluid discordance were much better in MCDA group ( P <0.001 ). Conclusions TTTS and MCDA twins with amniotic fluid discordance may overlap each other in the early stage. Serial surveillances of ultrasonography are necessary for prenatal differentiating twin pregnancies complicated by amniotic fluid discordance,and providing strong support to clinical treament.%目的 探讨产前超声监测羊水量不均衡双胎的临床价值.方法 分析270例双羊膜囊双胎中单绒毛膜双羊膜囊双胎(monochorionic-diamniotic twin,MCDA)与双绒毛膜双羊膜囊双胎(dichorionicdiamniotic twin,DCDA)羊水量不均衡的发生率,妊娠过程中羊水量变化趋势及与妊娠结局的关系.结果 共45例双胎间羊水量不均衡,MCDA组37例,其中24例为双胎输血综合征(twin-to-twin transfusion syndrome,TTTS);DCDA组8例,无TTTS发生.MCDA组羊水量不均衡的发生率明显高于DCDA组(P<0.001).MCDA组中羊水量不均衡的非TTTS双胎,羊水量的差异随孕周增加呈减少趋势,且

  12. Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size

    Directory of Open Access Journals (Sweden)

    Halder Ashutosh

    2012-03-01

    Full Text Available Abstract We report on a pair of male monozygotic twins with 22q11.2 microdeletion, discordant phenotype and discordant deletion size. The second twin had findings suggestive of DiGeorge syndrome, while the first twin had milder anomalies without any cardiac malformation. The second twin had presented with intractable convulsion, cyanosis and cardiovascular failure in the fourth week of life and expired on the sixth week of life, whereas the first twin had some characteristic facial appearance with developmental delay but no other signs of the 22q11.2 microdeletion syndrome including cardiovascular malformation. The fluorescence in situ hybridization (FISH analysis had shown a microdeletion on the chromosome 22q11.2 in both twins. The interphase FISH did not find any evidence for the mosaicism. The genomic DNA microarray analysis, using HumanCytoSNP-12 BeadChip (Illumina, was identical between the twins except different size of deletion of 22q11.2. The zygosity using HumanCytoSNP-12 BeadChip (Illumina microarray analysis suggested monozygosity. This observation indicates that altered size of the deletion may be the underlying etiology for the discordance in phenotype in monozygotic twins. We think early post zygotic events (mitotic non-allelic homologous recombination could have been played a role in the alteration of 22q11.2 deletion size and, thus phenotypic variability in the monozygotic twins.

  13. Naturally conceived twins with monochorionic placentation have the highest risk of fetal loss

    DEFF Research Database (Denmark)

    Sperling, Lene; Kiil, C; Larsen, L U;

    2006-01-01

    naturally and 266 (54%) by assisted reproduction (AR). Outcome data for 945 liveborn babies were obtained. The spontaneous miscarriage rate before 24 weeks' gestation was 10.9% (7/64) among naturally conceived MC compared to 3.0% (5/165) for naturally conceived DC twins (P

  14. Copy number variation distribution in six monozygotic twin pairs discordant for schizophrenia.

    Science.gov (United States)

    Castellani, Christina A; Awamleh, Zain; Melka, Melkaye G; O'Reilly, Richard L; Singh, Shiva M

    2014-04-01

    We have evaluated copy number variants (CNVs) in six monozygotic twin pairs discordant for schizophrenia. The data from Affymetrix® Human SNP 6.0 arrays™ were analyzed using Affymetrix® Genotyping Console™, Partek® Genomics Suite™, PennCNV, and Golden Helix SVS™. This yielded both program-specific and overlapping results. Only CNVs called by Affymetrix Genotyping Console, Partek Genomics Suite, and PennCNV were used in further analysis. This analysis included an assessment of calls in each of the six twin pairs towards identification of unique CNVs in affected and unaffected co-twins. Real time polymerase chain reaction (PCR) experiments confirmed one CNV loss at 7q11.21 that was found in the affected patient but not in the unaffected twin. The results identified CNVs and genes that were previously implicated in mental abnormalities in four of the six twin pairs. It included PYY (twin pairs 1 and 5), EPHA3 (twin pair 3), KIAA1211L (twin pair 4), and GPR139 (twin pair 5). They represent likely candidate genes and CNVs for the discordance of four of the six monozygotic twin pairs for this heterogeneous neurodevelopmental disorder. An explanation for these differences is ontogenetic de novo events that differentiate in the monozygotic twins during development.

  15. Salivary cortisol in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj; Bennike, Bente; Kyvik, Kirsten Ohm

    2008-01-01

    -sectional high-risk study. Healthy monozygotic (MZ) and dizygotic (DZ) twins with (High-Risk twins) and without (Low-Risk twins) a co-twin history of affective disorder were identified through nationwide registers. Awakening and evening salivary cortisol levels were compared between the 190 High- and Low......-Risk twins. The 109 High-Risk twins had significantly higher evening cortisol levels than the 81 Low-Risk MZ twins, also after adjustment for age, sex, and the level of subclinical depressive symptoms. No significant difference was found in awakening cortisol levels between High-Risk and Low-Risk twins....... In conclusion, a high genetic liability to affective disorder was associated with a higher evening cortisol level, but not with awakening cortisol level. Future prospective family, high-risk and twin studies are needed to decide whether abnormalities in the HPA axis can be identified as an endophenotype...

  16. Genome-wide analysis of DNA methylation differences in muscle and fat from monozygotic twins discordant for type 2 diabetes

    DEFF Research Database (Denmark)

    Ribel-Madsen, Rasmus; Fraga, Mario F; Jacobsen, Stine

    2012-01-01

    Monozygotic twins discordant for type 2 diabetes constitute an ideal model to study environmental contributions to type 2 diabetic traits. We aimed to examine whether global DNA methylation differences exist in major glucose metabolic tissues from these twins.......Monozygotic twins discordant for type 2 diabetes constitute an ideal model to study environmental contributions to type 2 diabetic traits. We aimed to examine whether global DNA methylation differences exist in major glucose metabolic tissues from these twins....

  17. Asthma discordance in twins is linked to epigenetic modifications of T cells.

    Directory of Open Access Journals (Sweden)

    R Scott Runyon

    Full Text Available T cells mediate the inflammatory responses observed in asthma among genetically susceptible individuals and have been suspected to be prone to epigenetic regulation. However, these relationships are not well established from past clinical studies that have had limited capacity to control for the effects of variable genetic predisposition and early environmental exposures. Relying on a cohort of monozygotic twins discordant for asthma we sought to determine if epigenetic modifications in T cells were associated with current asthma and explored whether such modifications were associated with second hand smoke exposures. Our study was conducted in a monozygotic twin cohort of adult twin pairs (n = 21 all discordant for asthma. Regulatory T cell (Treg and effector T cell (Teff subsets were assessed for levels of cellular function, protein expression, gene expression and CpG methylation within Forkhead box P3 (FOXP3 and interferon gamma-γ (IFNγ loci. Comparisons by asthma and current report of exposure to second hand smoke were made. Treg from asthmatic discordant twins demonstrated decreased FOXP3 protein expression and impaired Treg function that was associated with increased levels of CpG methylation within the FOXP3 locus when compared to their non-asthmatic twin partner. In parallel, Teff from discordant asthmatic twins demonstrated increased methylation of the IFNγ locus, decreased IFNγ expression and reduced Teff function when compared to Teff from the non-asthmatic twin. Finally, report of current exposure to second hand smoke was associated with modifications in both Treg and Teff at the transcriptional level among asthmatics. The results of the current study provide evidence for differential function of T cell subsets in monozygotic twins discordant for asthma that are regulated by changes in DNA methylation. Our preliminary data suggest exposure to second hand smoke may augment the modified T cell responses associated with asthma.

  18. DNA Methylation Changes in the IGF1R Gene in Birth Weight Discordant Adult Monozygotic Twins

    DEFF Research Database (Denmark)

    Tsai, Pei-Chien; Van Dongen, Jenny; Tan, Qihua;

    2015-01-01

    Low birth weight (LBW) can have an impact on health outcomes in later life, especially in relation to pre-disposition to metabolic disease. Several studies suggest that LBW resulting from restricted intrauterine growth leaves a footprint on DNA methylation in utero, and this influence likely...... persists into adulthood. To investigate this further, we performed epigenome-wide association analyses of blood DNA methylation using Infinium HumanMethylation450 BeadChip profiles in 71 adult monozygotic (MZ) twin pairs who were extremely discordant for birth weight. A signal mapping to the IGF1R gene (cg...... was particularly pronounced in older twins (random-effects meta-analysis p = .008, 98 older birth-weight discordant MZ twin pairs). The results suggest that severe intra-uterine growth differences (birth weight discordance >20%) are associated with methylation changes in the IGF1R gene in adulthood, independent...

  19. Exploring Subclinical Phenotypic Features in Twin Pairs Discordant for Cleft Lip and Palate

    DEFF Research Database (Denmark)

    Leslie, Elizabeth J; Carlson, Jenna C; Cooper, Margaret E

    2017-01-01

    OBJECTIVE: Monozygotic twins of an individual with an orofacial cleft have a significantly elevated risk for orofacial cleft compared with the general population, but still the concordance rate for orofacial cleft in monozygotic twins is about 40% to 50%. The goal of this study was to determine...... whether unaffected cotwins have an increased frequency of orbicularis oris muscle defects, a subclinical form of orofacial cleft. The presence of such defects may reduce the overall rate of discordance. METHOD: A total of 63 discordant monozygotic and dizygotic twin pairs, 262 unaffected nontwin siblings......, and 543 controls with no history of orofacial clefts were assessed for orbicularis oris defects by high-resolution ultrasound. Frequencies were compared by the Fisher exact test. RESULTS: Unaffected cotwins from discordant monozygotic pairs had a higher frequency of defects (12.5%) than the other test...

  20. Dichorionic Diamniotic Twin Pregnancy Discordant for Bladder Exstrophy

    OpenAIRE

    William Tu; Jane Chueh; William Kennedy

    2009-01-01

    A 38 year-old woman presented with a dichorionic diamniotic twin pregnancy at gestational age of 32 weeks concerning for an abdominal wall mass in one of the twins. Initial ultrasound evaluation was suspicious for an omphalocele, but the affected twin was found to have bladder exstrophy at birth. This illustrates the difficulties of accurate prenatal diagnosis of bladder exstrophy in a twin pregnancy at a late gestation.

  1. Dichorionic Diamniotic Twin Pregnancy Discordant for Bladder Exstrophy

    Directory of Open Access Journals (Sweden)

    William Tu

    2009-01-01

    Full Text Available A 38 year-old woman presented with a dichorionic diamniotic twin pregnancy at gestational age of 32 weeks concerning for an abdominal wall mass in one of the twins. Initial ultrasound evaluation was suspicious for an omphalocele, but the affected twin was found to have bladder exstrophy at birth. This illustrates the difficulties of accurate prenatal diagnosis of bladder exstrophy in a twin pregnancy at a late gestation.

  2. Twin Legacies: Victor and Vincent McKusick/Twin Studies: Twinning Rates I; Twinning Rates II; MZ Twin Discordance for Russell-Silver Syndrome; Twins' Language Skills/Headlines: Babies Born to Identical Twin Couples; Identity Exchange; Death of Princess Ashraf (Twin); Yahoo CEO Delivers Identical Twins.

    Science.gov (United States)

    Segal, Nancy L

    2016-04-01

    The lives of the illustrious monozygotic (MZ) twins, Victor A. and Vincent L. McKusick, are described. Victor earned the distinction as the 'Father of Medical Genetics', while Vincent was a legendary Chief Justice of the Maine Supreme Court. This dual biographical account is followed by two timely reports of twinning rates, a study of MZ twin discordance for Russell-Silver Syndrome (RSS) and a study of twins' language skills. Twin stories in the news include babies born to identical twin couples, a case of switched identity, the death of Princess Ashraf (Twin) and a new mother of twins who is also Yahoo's CEO.

  3. Personality traits in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Vinberg, M; Kyvik, Kirsten Ohm; Mortensen, E L

    2007-01-01

    ) and without (the control group/low-risk twins) a co-twin history of affective disorder were identified. Personality traits were compared for a total of 211 high-risk and low-risk twins. RESULTS: In univariate analyses, the high-risk twins had a higher level of neuroticism than the control twins (P = 0.......03). In multivariate analyses, a high genetic liability to affective disorder was not significantly associated with neuroticism but correlated to sex, minor psychopathology and recent life events. CONCLUSION: A high genetic liability to affective disorder showed an association with neuroticism, but the association...

  4. Epigenetic differences in cortical neurons from a pair of monozygotic twins discordant for Alzheimer's disease.

    Directory of Open Access Journals (Sweden)

    Diego Mastroeni

    Full Text Available DNA methylation is capable of modulating coordinate expression of large numbers of genes across many different pathways, and may therefore warrant investigation for their potential role between genes and disease phenotype. In a rare set of monozygotic twins discordant for Alzheimer's disease (AD, significantly reduced levels of DNA methylation were observed in temporal neocortex neuronal nuclei of the AD twin. These findings are consistent with the hypothesis that epigenetic mechanisms may mediate at the molecular level the effects of life events on AD risk, and provide, for the first time, a potential explanation for AD discordance despite genetic similarities.

  5. Differentially Methylated Genomic Regions in Birth-Weight Discordant Twin Pairs

    DEFF Research Database (Denmark)

    Chen, Mubo; Baumbach, Jan; Vandin, Fabio

    2016-01-01

    twin pairs to find evidence for such “programming” effects, but no significant results emerged. We further investigated this issue using a new computational approach: Instead of probing single genomic sites for significant alterations in epigenetic marks, we scan for differentially methylated genomic...... regions. Whole genome DNA methylation levels were measured in whole blood from 150 pairs of adult identical twins discordant for birth-weight. Intrapair differential DNA methylation was associated with qualitative (large or small) and quantitative (percentage) birth-weight discordance at each genomic site...

  6. Birth weight discordant twins have increased prenatal mortality and neonatal morbidity: an analysis of 1,132 twins

    Directory of Open Access Journals (Sweden)

    Sara Domingues

    2015-02-01

    Full Text Available Background: Multiple pregnancies have increased significantly over the past decades. Birth weight discordance (BWD is a common problem between twins, but its association with an increased morbidity and mortality is still unclear. The aim of this study was to determine the frequency of BWD among twins and to evaluate its impact on perinatal morbidity.Methods: Retrospective study of 1,132 twins born in a tertiary perinatal center, over a period of 8 years (2003-2010, that were divided in two groups: concordant (intrapair birth weight difference ≤ 20% or discordant (> 20%. The two groups were compared in terms of epidemiological and obstetric data, mode of delivery, perinatal morbidity and mortality.Results: During the study period, multiple gestation occurred in 2% of cases, of which 96% were twins. BWD was found in 212 (19% twins. Multivariate analysis demonstrated that maternal age ≥ 35 years and hypoxic-ischemic placental infarction were risk factors for the occurrence of BWD. The discordant group showed a significantly higher incidence of congenital skeletal and central nervous system malformations, a higher rate of hospitalization in the neonatal intensive care unit and a longer duration of hospitalization. The percentage of those requiring assisted ventilation, pulmonary surfactant, parenteral nutrition and central venous catheters was significantly higher in the discordant group compared with the concordant one. The rate of stillbirth was significantly higher in the discordant group (3% versus 1%; mortality was also higher (3% versus 2%, but this difference was not statistically significant (p = 0.405.Conclusion: BWD was associated with increased prenatal mortality and neonatal morbidity. Diagnosis and management of pregnant women with this fetal condition in tertiary perinatal centers may improve the prognosis of these infants.

  7. Effective treatment of cervical incompetence in a monochorionic monoamniotic twin pregnancy with a rescue cervical cerclage and pessary--a case report and review of literature.

    Science.gov (United States)

    Kosińska-Kaczyńska, Katarzyna; Szymusik, Iwona; Bomba-Opoń, Dorota; Brawura-Biskupski-Samaha, Robert; Wegrzyn, Piotr; Wielgoś, Mirosław

    2012-12-01

    A monochorionic monoamniotic (MCMA) twin pregnancy is the rarest form of twin gestation, accounting for around 1:10000 to 1:20000 of all deliveries regardless of the region of the world. All multiple gestations have a higher risk of preterm delivery due to either preterm uterine contractions or asymptomatic cervical shortening (cervical incompetence). A case of a 28-year-old primigravida in MCMA twin pregnancy with cervical incompetence diagnosed at 22 weeks of gestation is presented. After obtaining cervical swabs, negative laboratory infection parameters and confirming concordant gestational age on ultrasound scan with no structural abnormalities of both fetuses, the patient was qualified for an emergency cervical cerclage according to Wurm-Hefner method. Five days after the procedure, a cervical pessary was additionally inserted. She was administered antibiotics and steroids. The wellbeing of both fetuses was strictly monitored by means of cardiotocography tracing and ultrasound examinations, on which they were both eutrophic, with no abnormalities in Doppler blood flow patterns. Spontaneous premature rupture of membranes took place at 32 weeks of gestation, a cesarean section was performed and two female fetuses of 1740 g and 1760 g were delivered. They both required antibiotics because of congenital pneumonia, but no respiratory support was necessary The twins were discharged from the hospital 22 days after birth in good general condition. This case of a rescue cervical cerclage and pessary used simultaneously can be an example of an effective method of cervical incompetence treatment in twin pregnancies.

  8. Filaggrin gene loss-of-function mutations explain discordance of atopic dermatitis within dizygotic twin pairs

    DEFF Research Database (Denmark)

    Thomsen, Simon Francis; Elmose, Camilla; Szecsi, Pal Bela

    2016-01-01

    OBJECTIVES: This study was designed to examine the association between loss-of-function mutations in the filaggrin gene (FLG) and atopic dermatitis (AD) and asthma in adult twins. METHODS: A previously well-characterized cohort of 575 adult twins were genotyped for the loss-of-function mutations...... in FLG (R501X, 2282del4 and R2447X) most common among northern Europeans. Subjects were examined for symptoms of atopic diseases as well as for lung function, airway responsiveness, and atopy. RESULTS: In the whole population of twins, the risk for AD was significantly increased in individuals with FLG...... no significant differences in risk for asthma by FLG mutation status in individuals with and without AD, respectively (P-value for interaction, 0.595). In 11 dizygotic twin pairs discordant for FLG mutation status, risk for AD was higher in the twin carrying the FLG mutation (five of 11 [45.5%] twins had...

  9. Changes in the pattern of DNA methylation associate with twin discordance in systemic lupus erythematosus

    Science.gov (United States)

    Javierre, Biola M.; Fernandez, Agustin F.; Richter, Julia; Al-Shahrour, Fatima; Martin-Subero, J. Ignacio; Rodriguez-Ubreva, Javier; Berdasco, Maria; Fraga, Mario F.; O'Hanlon, Terrance P.; Rider, Lisa G.; Jacinto, Filipe V.; Lopez-Longo, F. Javier; Dopazo, Joaquin; Forn, Marta; Peinado, Miguel A.; Carreño, Luis; Sawalha, Amr H.; Harley, John B.; Siebert, Reiner; Esteller, Manel; Miller, Frederick W.; Ballestar, Esteban

    2010-01-01

    Monozygotic (MZ) twins are partially concordant for most complex diseases, including autoimmune disorders. Whereas phenotypic concordance can be used to study heritability, discordance suggests the role of non-genetic factors. In autoimmune diseases, environmentally driven epigenetic changes are thought to contribute to their etiology. Here we report the first high-throughput and candidate sequence analyses of DNA methylation to investigate discordance for autoimmune disease in twins. We used a cohort of MZ twins discordant for three diseases whose clinical signs often overlap: systemic lupus erythematosus (SLE), rheumatoid arthritis, and dermatomyositis. Only MZ twins discordant for SLE featured widespread changes in the DNA methylation status of a significant number of genes. Gene ontology analysis revealed enrichment in categories associated with immune function. Individual analysis confirmed the existence of DNA methylation and expression changes in genes relevant to SLE pathogenesis. These changes occurred in parallel with a global decrease in the 5-methylcytosine content that was concomitantly accompanied with changes in DNA methylation and expression levels of ribosomal RNA genes, although no changes in repetitive sequences were found. Our findings not only identify potentially relevant DNA methylation markers for the clinical characterization of SLE patients but also support the notion that epigenetic changes may be critical in the clinical manifestations of autoimmune disease. PMID:20028698

  10. Is there a genetic basis for Fuchs' heterochromic uveitis? Discordance in monozygotic twins.

    OpenAIRE

    Jones, N. P.; Read, A P

    1992-01-01

    One pair, and probably two pairs, of monozygotic twins are reported with discordance for Fuchs' heterochromic uveitis (FHU). Regular Mendelian inheritance of this disease is now proved to be impossible. The heritability of FHU is low and may be zero. The possibility of any genetic predisposition to the disease and its association with 'simple' heterochromia are discussed.

  11. Discordant sex in monozygotic XXY/XX twins: a case report.

    Science.gov (United States)

    Tachon, G; Lefort, G; Puechberty, J; Schneider, A; Jeandel, C; Boulot, P; Prodhomme, O; Meyer, P; Taviaux, S; Touitou, I; Pellestor, F; Geneviève, D; Gatinois, V

    2014-12-01

    We report a case of discordant phenotypic sex in monozygotic twins mosaic 47,XXY/46,XX: monozygotic heterokaryotypic twins. The twins presented with cognitive and comprehension delay, behavioural and language disorders, all symptoms frequently reported in Klinefelter syndrome. Molecular zygosity analysis with several markers confirmed that the twins are in effect monozygotic (MZ). Array comparative genomic hybridization found no evidence for the implication of copy number variation in the phenotypes. Ultrasound scans of the reproductive organs revealed no abnormalities. Endocrine tests showed a low testosterone level in Twin 1 (male phenotype) and a low gonadotrophin level in Twin 2 (female phenotype) which, combined with the results from ultrasound examination, provided useful information for potentially predicting the future fertility potential of the twins. Blood karyotypes revealed the presence of a normal 46,XX cell line and an aneuploïd 47,XXY cell line in both patients. Examination of the chromosome constitutions of various tissues such as blood, buccal smear and urinary sediment not surprisingly showed different proportions for the 46,XX and 47,XXY cell lines, which most likely explains the discordant phenotypic sex and mild Klinefelter features. The most plausible underlying biological mechanism is a post-zygotic loss of the Y chromosome in an initially 47,XXY zygote. This would result in an embryo with both 46,XX and 47,XXY cells lines which could subsequently divide into two monozygotic embryos through a twinning process. The two cell lines would then be distributed differently between tissues which could result in phenotypic discordances in the twins. These observations emphasize the importance of regular paediatric evaluations to determine the optimal timing for fertility preservation measures and to detect new Klinefelter features which could appear throughout childhood in the two subjects.

  12. Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome.

    Directory of Open Access Journals (Sweden)

    Kunio Miyake

    Full Text Available Monozygotic (identical twins have been widely used in genetic studies to determine the relative contributions of heredity and the environment in human diseases. Discordance in disease manifestation between affected monozygotic twins has been attributed to either environmental factors or different patterns of X chromosome inactivation (XCI. However, recent studies have identified genetic and epigenetic differences between monozygotic twins, thereby challenging the accepted experimental model for distinguishing the effects of nature and nurture. Here, we report the genomic and epigenomic sequences in skin fibroblasts of a discordant monozygotic twin pair with Rett syndrome, an X-linked neurodevelopmental disorder characterized by autistic features, epileptic seizures, gait ataxia and stereotypical hand movements. The twins shared the same de novo mutation in exon 4 of the MECP2 gene (G269AfsX288, which was paternal in origin and occurred during spermatogenesis. The XCI patterns in the twins did not differ in lymphocytes, skin fibroblasts, and hair cells (which originate from ectoderm as does neuronal tissue. No reproducible differences were detected between the twins in single nucleotide polymorphisms (SNPs, insertion-deletion polymorphisms (indels, or copy number variations. Differences in DNA methylation between the twins were detected in fibroblasts in the upstream regions of genes involved in brain function and skeletal tissues such as Mohawk Homeobox (MKX, Brain-type Creatine Kinase (CKB, and FYN Tyrosine Kinase Protooncogene (FYN. The level of methylation in these upstream regions was inversely correlated with the level of gene expression. Thus, differences in DNA methylation patterns likely underlie the discordance in Rett phenotypes between the twins.

  13. Discordance for Cri du Chat Syndrome in a dichorionic–diamniotic twin pregnancy

    Directory of Open Access Journals (Sweden)

    Mireia González-Comadran

    2015-07-01

    Full Text Available We report on the prenatal diagnosis through array CGH of a dichorionic–diamniotic (DC/DA twins discordant for Cri du Chat Syndrome. Structural anomalies on one of the twins lead to amniotic fluid sampling, which revealed a partial deletion on the short arm of the chromosome 5. Selective feticide of the affected twin was performed at 34 + 1 weeks' and elective Cesarean section at 37 + 2 weeks. Postnatal cytogenetic analysis confirmed pre-natal genetic findings.

  14. Quality of life in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj; Bech, Per; Kyvik, Kirsten Ohm

    2006-01-01

    BACKGROUND: The disability and hardship associated with affective disorder is shared by the family members of affective patients and might affect the family member's quality of life. METHOD: In a cross-sectional, high-risk, case-control study, monozygotic (MZ) and dizygotic (DZ) twins with (High...... of life. RESULTS: Univariate analyses showed that quality of life in all domains was impaired for the 121 High-Risk twins compared to the 84 Low-Risk twins. In multiple regression analyses, the differences remained significant after adjustment for sex, age, marital status and years of education. Adjusted...

  15. Quality of life in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Vinberg, Maj; Bech, Per; Kyvik, Kirsten Ohm

    2006-01-01

    BACKGROUND: The disability and hardship associated with affective disorder is shared by the family members of affective patients and might affect the family member's quality of life. METHOD: In a cross-sectional, high-risk, case-control study, monozygotic (MZ) and dizygotic (DZ) twins with (High......-Risk twins) and without (the control group/Low-Risk twins) a co-twin history of affective disorder were identified through nationwide registers. The aim of the present study was to investigate the hypothesis that a genetic liability to affective disorder is associated with a lower perception of quality...... for the effect of subclinical anxiety and depressive symptoms, the differences were significant on the domain environment and total WHOQoL-BREF and marginally significant on the domain physical health and overall quality of life. LIMITATIONS: It is not possible from the cross-sectional analyses to distinguish...

  16. Risk of chronic bronchitis in twin pairs discordant for smoking

    DEFF Research Database (Denmark)

    Meteran, Howraman; Thomsen, Simon Francis; Harmsen, Lotte

    2012-01-01

    It is well known that smoking is a major risk factor for lung disease and respiratory symptoms. We examined the association between smoking and the risk of chronic bronchitis in a large twin sample.......It is well known that smoking is a major risk factor for lung disease and respiratory symptoms. We examined the association between smoking and the risk of chronic bronchitis in a large twin sample....

  17. Psychiatric outcomes of bullying victimization: A study of discordant monozygotic twins

    Science.gov (United States)

    Silberg, Judy L.; Copeland, William; Linker, Julie; Moore, Ashlee A.; Roberson-Nay, Roxann; York, Timothy P.

    2016-01-01

    Background Bullying victimization in childhood is associated with a broad array of serious mental health disturbances, including anxiety, depression, and suicidal ideation and behavior. The key goal of this study was to evaluate whether bullying victimization is a true environmental risk factor for psychiatric disturbance using data from 145 bully-discordant monozygotic (MZ) juvenile twin pairs from the Virginia Twin Study of Adolescent Behavioral Development (VTSABD) and their follow-up into young adulthood. Method Since MZ twins share an identical genotype and familial environment, a higher rate of psychiatric disturbance in a bullied MZ twin compared to their non-bullied MZ co-twin would be evidence of an environmental impact of bullying victimization. Environmental correlations between being bullied and the different psychiatric traits were estimated by fitting structural equation models to the full sample of MZ and DZ twins (N = 2824). Environmental associations were further explored using the longitudinal data on the bullying-discordant MZ twins. Results Being bullied was associated with a wide range of psychiatric disorders in both children and young adults. The analysis of data on the MZ-discordant twins supports a genuine environmental impact of bullying victimization on childhood social anxiety [odds ratio (OR) 1.7], separation anxiety (OR 1.9), and young adult suicidal ideation (OR 1.3). There was a shared genetic influence on social anxiety and bullying victimization, consistent with social anxiety being both an antecedent and consequence of being bullied. Conclusion Bullying victimization in childhood is a significant environmental trauma and should be included in any mental health assessment of children and young adults. PMID:26979565

  18. Recurrence risk for offspring of twins discordant for oral cleft: a population-based cohort study of the Danish 1936-2004 cleft twin cohort

    DEFF Research Database (Denmark)

    Grosen, Dorthe; Bille, Camilla; Pedersen, Jacob Krabbe;

    2010-01-01

    Our objective in this Danish population-based cohort study was to estimate the recurrence risk of isolated oral cleft (OC) for offspring of the unaffected co-twins of OC discordant twin pairs and to compare this risk to the recurrence risk in the offspring of the affected co-twin as well...... as to the risk in the background population. During 1936-2004, 207 twin pairs were ascertained, among whom at least one twin had an OC. The index persons were twins discordant for OC who had children (N=117), and their offspring (N=239). The participants were ascertained by linkage between The Danish Facial...... Cleft Database, The Danish Twin Registry and The Danish Civil Registration System. In the study OC recurrence risk for offspring of the affected and unaffected twin and relative risk were compared to the background prevalence. We found that among 110 children of the 54 OC affected twins, two (1...

  19. Monozygotic twins with 45,X/46,XY mosaicism discordant for phenotypic sex.

    Science.gov (United States)

    Costa, T; Lambert, M; Teshima, I; Ray, P N; Richer, C L; Dallaire, L

    1998-01-06

    We report on two sets of monozygotic twins (MZTs) discordant for phenotypic sex ascertained at birth when the female twin was noted to have signs of the Ullrich-Turner syndrome. Cytogenetic investigations on the female of the first pair showed 45,X/46,XY mosaicism in lymphocytes but fibroblasts grown from two skin biopsies at separate sites and from gonadal tissue showed only 45,X cells. The male showed mosaicism in both blood lymphocytes and skin fibroblasts. In the second family, both twins also showed mosaicism in lymphocytes. The female had a 45,X karyotype in fibroblasts from skin and gonadal tissue, but in contrast to the first family, the male twin had a normal male karyotype in fibroblasts from skin biopsy and from connective tissue adjacent to the vas deferens. Discordant phenotypic sex in monozygotic twins is rare. As in our cases, the nine previously reported sets of MZTs all had mosaicism for sex chromosome abnormalities. A mitotic error leading to the loss of a Y chromosome prior to, accompanying, or following the twinning process would account for the reported combinations of karyotypes.

  20. Pregnancy outcomes of twin pregnancies complicated with growth discordance%双胎妊娠胎儿发育不均衡的妊娠结局

    Institute of Scientific and Technical Information of China (English)

    赫英东; 李雨利; 陈倩

    2014-01-01

    ,2000 and July 31,2012 in Peking University First Hospital were retrospectively analyzed.Cases with twin-twin transfusion syndrome had been excluded.Fetal weight was estimated by abdominal circumference and femur length; neonatal birth weight was recorded.The weight difference between two babies was divided by the weight of the bigger one to obtain the differential ratio.Twin pregnancy complicated with growth discordance was diagnosed if the ratio was equal or greater than 25% (discordance group,n=68),and growth concordance was diagnosed if the ratio was less than 25% (concordance group,n=508).The incidence of twin pregnancies complicated with growth discordance was analyzed.The incidence of maternal complications,premature delivery,perinatal death and neonatal complications were compared between the two groups.Chisquare test and t test were used for statistical analysis.Results The incidence of twin pregnancies complicated with growth discordance was 11.8% (68/576).The incidence of growth discordance in monochorionic twins was higher than that in dichorionic twins [17.6% (40/227) vs 8.0% (28/349),x2=11.40,P<0.05].The gestational age at delivery in the discordance group was earlier than that in the concordance group [(35.6±4.1) weeks vs (36.6±3.2) weeks,t=-1.66,P<0.05],and the incidence of premature delivery in the discordance group was higher than that in the concordance group [58.8% (40/68) vs 47.6% (242/508),x2=3.85,P<0.05].The perinatal mortality in discordance group was higher than that in the concordance group [9.6% (13/136) vs 4.7% (48/1 016),x2=5.84,P<0.05].Among babies in discordance group,the incidence of intracranial lesion in monochorionic twins was higher than that in dichorionic twins [20.9% (14/67) vs 6.8% (3/44),x2=4.06,P<0.05].Conclusions Twin pregnancies with growth discordance are prone to adverse pregnancy outcomes.Prenatal care should be strengthened and fetal condition should be assessed timely.It is suggested that

  1. Bipolar coagulation used in selective feticide of monochorionic twins with one twin anomaly%对单绒毛膜双胎中异常胎儿行脐带双极电凝减胎术的研究

    Institute of Scientific and Technical Information of China (English)

    方群; 姚书忠; 谢红宁; 何志明; 杨永忠; 罗艳敏; 周岏

    2008-01-01

    Objective To summarize our preliminary experience of selective fetieide with bipolar coagulation in complicated monochorionie twins(MCT),and discuss the clinical application of feticide in discordant MCT.Methods Three MCT with one twin anomaly.in which 2 had severe twin-twin transfusion syndrome(TTTS),stage Ⅳ ,and 1 had acardiac twin,were identified in the second trimester of pregnancy.To terminate the abnormal twin and isolate the co-twin's circulation completely.selective feticide was performed by umbilical cord occlusion with bipolar coagulation under guidance of ultrasound and fetoscopy.After each invasive procedure,serial monitoring was performed,including procedural complications,Doppler of fetal middle cerebral artery and umbilical artery.Pregnancies were followed up every 2 weeks for fetal growth until delivery.After birth the placentas and the terminated fetuses were examined.Result Cord occlusion was successfully accomplished in all 3 targeted fetuses,at 21,22 and 24 weeks of gestation respectively.One case with TTTS was complicated with rupture of the membrane in the terminated fetus at the 7th day after the procedure.and a healthy baby was born at 32 weeks.The other case with TTTS delivered a boy by cesarean section at 38 weeks.The third case with TRAP is at 35 weeks of gestations and under regular follow-up.Monochorionicity was confirmed by placental examination after delivery.and the effects of bipolar coagulation were observed at the,cord of terminated fetuses.Conclusions Umbilical cord occlusion witll bipolar coagulation is an effective procedure for selective feticide in MCT with one twin anomaly.The outcome of normal fetus can be favorable.%目的 探讨脐带双极电凝法对单绒毛膜双胎中异常胎儿进行选择性减胎术的临床应用价值.方法 选择2007年2-3月中山大学附属第一医院妇产科胎儿医学中心收治的3例一胎异常的单绒毛膜双胎孕妇,其中2例为双胎输血综合征,1例双胎之一为无

  2. Discordant tooth agenesis and peg-shaped in a pair of monozygotic twins: Clinical and molecular study.

    Science.gov (United States)

    Antunes, Lívia Azeredo Alves; Küchler, Erika Calvano; Costa, Marcelo de Castro; Antunes, Leonardo Santos; Granjeiro, José Mauro

    2013-11-01

    The present report aimed to study an uncommon case of a pair of twins that presented a discordant dental phenotype. Family investigation, clinical, radiographic examination and molecular analysis were performed in both girls. Molecular analysis confirmed the monozygosity by deoxyribonucleic acid chip technology. One twin presented tooth agenesis in left upper lateral incisor and peg-shaped on the contra lateral side while the other twin had no dental alterations. The dental casts study employed digital caliper to compare morphological dimensions and showed alteration only in peg-shaped tooth. In conclusion, this study provide support that one or more mutated gene could cause discordances in dental phenotype in these monozygotic twins.

  3. Low birth weight is associated with NIDDM in discordant monozygotic and dizygotic twin pairs

    DEFF Research Database (Denmark)

    Poulsen, P; Vaag, Allan; Kyvik, K O;

    1997-01-01

    Previous studies have demonstrated an association between low weight at birth and risk of later development of non-insulin-dependent diabetes mellitus (NIDDM). It is not known whether this association is due to an impact of intrauterine malnutrition per se, or whether it is due to a coincidence....... Furthermore, monozygotic (MZ) twins have identical genotypes. Original midwife birth weight record determinations were traced in MZ and dizygotic (DZ) twins discordant for NIDDM. Birth weights were lower in the NIDDM twins (n = 2 x 14) compared with both their identical (MZ; n = 14) and non-identical (DZ; n...... = 14) non-diabetic co-twins, respectively (MZ: mean +/- SEM 2634 +/- 135 vs 2829 +/- 131 g, p

  4. Epigenome-wide association study on identical twins discordant for birth weight

    DEFF Research Database (Denmark)

    Tan, Qihua; Nielsen, Morten Frost Munk; Christiansen, Lene

    induces persistent epigenetic modification detectable at adult ages, we performed a genome-wide DNA methylation profiling in peripheral blood of 150 pairs of identical Danish twins discordant for birth weight using the Illumina Infinium HumanMethylation450 BeadChip featuring 485,000 CpG sites across...... the genome. After quality control and data preprocessing using free R package minfi, data were analysed by a mixed effects model including fixed effect variables such as birth weight difference, age and sex of twin pairs; random effect variables such as batch, well, and sample position on the array, etc....... Statistical analysis revealed 12 probes with p valuetwins is not associated...

  5. Twin-to-twin transfusion syndrome : from placental anastomoses to long-term outcome

    NARCIS (Netherlands)

    Lopriore, Enrico

    2006-01-01

    Twin-to-twin transfusion syndrome (TTTS) is a severe complication of monochorionic twin pregnancies associated with high perinatal mortality and morbidity rates. Placental vascular anastomoses, almost invariably present in monochorionic placentas, are the essential anatomical substrate for the devel

  6. Twin-to-twin transfusion syndrome : from placental anastomoses to long-term outcome

    NARCIS (Netherlands)

    Lopriore, Enrico

    2006-01-01

    Twin-to-twin transfusion syndrome (TTTS) is a severe complication of monochorionic twin pregnancies associated with high perinatal mortality and morbidity rates. Placental vascular anastomoses, almost invariably present in monochorionic placentas, are the essential anatomical substrate for the

  7. Twin-to-twin transfusion syndrome : from placental anastomoses to long-term outcome

    NARCIS (Netherlands)

    Lopriore, Enrico

    2006-01-01

    Twin-to-twin transfusion syndrome (TTTS) is a severe complication of monochorionic twin pregnancies associated with high perinatal mortality and morbidity rates. Placental vascular anastomoses, almost invariably present in monochorionic placentas, are the essential anatomical substrate for the devel

  8. Differentially Methylated DNA Regions in Monozygotic Twin Pairs Discordant for Rheumatoid Arthritis

    DEFF Research Database (Denmark)

    Svendsen, Anders J; Gervin, Kristina; Lyle, Robert;

    2016-01-01

    OBJECTIVES: In an explorative epigenome-wide association study (EWAS) to search for gene independent, differentially methylated DNA positions and regions (DMRs) associated with rheumatoid arthritis (RA) by studying monozygotic (MZ) twin pairs discordant for RA. METHODS: Genomic DNA was isolated......: We identified several differentially methylated regions associated with RA, which may represent environmental effects or consequences of the disease and plausible biological pathways pertinent to the pathogenesis of RA....

  9. Twin anemia polycythemia sequence: a single center experience and literature review.

    Science.gov (United States)

    Moaddab, Amirhossein; Nassr, Ahmed A; Espinoza, Jimmy; Ruano, Rodrigo; Bateni, Zhoobin H; Shamshirsaz, Amir A; Mandy, George T; Welty, Stephen E; Erfani, Hadi; Popek, Edwina J; Belfort, Michael A; Shamshirsaz, Alireza A

    2016-10-01

    Twin anemia polycythemia sequence (TAPS) is defined by significant intertwin hemoglobin discordance without the amniotic fluid discordance that characterizes twin-twin-transfusion syndrome (TTTS) in monochorionic twin pregnancies. TAPS is an uncommon condition which can either occur spontaneously, or following fetoscopic laser ablation for TTTS. This complication is thought to result from chronic transfusion through very small placental anastomoses; however, the pathogenesis of TAPS remains unknown. Consequently, there is no consensus in the management of TAPS. In this article, three cases of TAPS are described and we review the literature on this uncommon pregnancy complication.

  10. Metabolome and fecal microbiota in monozygotic twin pairs discordant for weight: a Big Mac challenge.

    Science.gov (United States)

    Bondia-Pons, Isabel; Maukonen, Johanna; Mattila, Ismo; Rissanen, Aila; Saarela, Maria; Kaprio, Jaakko; Hakkarainen, Antti; Lundbom, Jesper; Lundbom, Nina; Hyötyläinen, Tuulia; Pietiläinen, Kirsi H; Orešič, Matej

    2014-09-01

    Postprandial responses to food are complex, involving both genetic and environmental factors. We studied postprandial responses to a Big Mac meal challenge in monozygotic co-twins highly discordant for body weight. This unique design allows assessment of the contribution of obesity, independent of genetic liability. Comprehensive metabolic profiling using 3 analytical platforms was applied to fasting and postprandial serum samples from 16 healthy monozygotic twin pairs discordant for weight (body mass index difference >3 kg/m(2)). Nine concordant monozygotic pairs were examined as control pairs. Fecal samples were analyzed to assess diversity of the major bacterial groups by using 5 different validated bacterial group specific denaturing gradient gel electrophoresis methods. No differences in fecal bacterial diversity were detected when comparing co-twins discordant for weight (ANOVA, Pfasting state, but their levels converged postprandially (paired t tests, FDR q<0.05). We also found that specific bacterial groups were associated with postprandial changes of specific metabolites. Our findings underline important roles of genetic and early life factors in the regulation of postprandial metabolite levels.

  11. A simulation study on power of epigenome-wide association analysis using disease-discordant twin design

    DEFF Research Database (Denmark)

    Li, Weilong; Baumbach, Jan; Christiansen, Lene

    -control design, its statistical power has not been well investigated. Methods We perform a computer simulation study on the power of the disease discordant twin design assuming that both genetic and environmental factors contribute to the liability of a disease phenotype. Power is assessed under different levels......Background Identical twin pairs discordant for a disease have been widely used in epigenome-wide association studies (EWAS) of complex diseases because the underlying genetic background is cancelled out. Although the twin design is deemed to have enriched power as compared with ordinary case...... with moderate effect and for diseases with heritability>0.3. The power advantage in discordant twin design becomes more obvious with increasing heritability. For diseases with no genetic background, the twin design is slightly underpowered, while for high heritability (0.5), high intrapair methylation...

  12. Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsy.

    Directory of Open Access Journals (Sweden)

    Pongsathorn Chaiyasap

    Full Text Available Congenital heart defects (CHD occur in 40% of patients with trisomy 21, while the other 60% have a structurally normal heart. This suggests that the increased dosage of genes on chromosome 21 is a risk factor for abnormal heart development. Interaction of genes on chromosome 21 or their gene products with certain alleles of genes on other chromosomes could contribute to CHD. Here, we identified a pair of monozygotic twins with trisomy 21 but discordant for a ventricular septal defect and epilepsy. Twin-zygosity was confirmed by microsatellite genotyping. We hypothesized that some genetic differences from post-twinning mutations caused the discordant phenotypes. Thus, next generation sequencing (NGS technologies were applied to sequence both whole genome and exome of their leukocytes. The post-analyses of the sequencing data revealed 21 putative discordant exonic variants between the twins from either genome or exome data. However, of the 15 variants chosen for validation with conventional Sanger sequencing, these candidate variants showed no differences in both twins. The fact that no discordant DNA variants were found suggests that sequence differences of DNA from leukocytes of monozygotic twins might be extremely rare. It also emphasizes the limitation of the current NGS technology in identifying causative genes for discordant phenotypes in monozygotic twins.

  13. Recurrence risk for offspring of twins discordant for oral cleft: a population-based cohort study of the Danish 1936-2004 cleft twin cohort.

    Science.gov (United States)

    Grosen, Dorthe; Bille, Camilla; Pedersen, Jacob Krabbe; Skytthe, Axel; Murray, Jeffrey C; Christensen, Kaare

    2010-10-01

    Our objective in this Danish population-based cohort study was to estimate the recurrence risk of isolated oral cleft (OC) for offspring of the unaffected co-twins of OC discordant twin pairs and to compare this risk to the recurrence risk in the offspring of the affected co-twin as well as to the risk in the background population. During 1936-2004, 207 twin pairs were ascertained, among whom at least one twin had an OC. The index persons were twins discordant for OC who had children (N=117), and their offspring (N=239). The participants were ascertained by linkage between The Danish Facial Cleft Database, The Danish Twin Registry and The Danish Civil Registration System. In the study OC recurrence risk for offspring of the affected and unaffected twin and relative risk were compared to the background prevalence. We found that among 110 children of the 54 OC affected twins, two (1.8%) children had OC corresponding to a significantly increased relative risk (RR=10; 95% CI 1.2-35) when compared to the frequency in the background population. Among the 129 children of the 63 unaffected twins, three (2.3%) children were affected, corresponding to a significantly increased relative risk (RR=13; 95% CI 2.6-36) when compared the background prevalence. We concluded that in OC discordant twin pairs similar increased recurrence risks were found among offspring of both OC affected and OC unaffected twins. This provides further evidence for a genetic component in cleft etiology and is useful information for genetic counseling of twin pairs discordant for clefting. Copyright © 2010 Wiley-Liss, Inc.

  14. College-age twins: university admission policies / twin research: birth weight and neuromotor performance; transfusion syndrome markers; vanishing twins and fetal sex determination; mz twin discordance for wilson's disease / media: big at birth; planned separation of conjoined twins; x factor twins; Cinema: the identical.

    Science.gov (United States)

    Segal, Nancy L

    2014-12-01

    There is a lack of research findings addressing the unique college admissions issues faced by twins and other multiples. The advantages and disadvantage twins face, as reported by college administrators, twins and families are reviewed. Next, recent research addressing twins' birth weight and neuromotor performance, transfusion syndrome markers, the vanishing twin syndrome and monozygotic (MZ) twin discordance for Wilson's disease is described. News items concerning the birth of unusually large twins, the planned separation of conjoined twins, twin participants in the X Factor games and a film, The Identical, are also summarized.

  15. Discordant tooth agenesis and peg-shaped in a pair of monozygotic twins: Clinical and molecular study

    OpenAIRE

    Lívia Azeredo Alves Antunes; Erika Calvano Küchler; Marcelo de Castro Costa; Leonardo Santos Antunes; José Mauro Granjeiro

    2013-01-01

    The present report aimed to study an uncommon case of a pair of twins that presented a discordant dental phenotype. Family investigation, clinical, radiographic examination and molecular analysis were performed in both girls. Molecular analysis confirmed the monozygosity by deoxyribonucleic acid chip technology. One twin presented tooth agenesis in left upper lateral incisor and peg-shaped on the contra lateral side while the other twin had no dental alterations. The dental casts study employ...

  16. Gray and white matter volume abnormalities in monozygotic and same-gender dizygotic twins discordant for schizophrenia

    DEFF Research Database (Denmark)

    Hilshoff, Hilleke E.; Brans, Rachel G. H.; van Haren, Neeltje E. M.

    2004-01-01

    in gray or white matter volume change is not known. METHODS: Magnetic resonance imaging (1.5 T) brain scans of 11 monozygotic and 11 same-gender dizygotic twin pairs discordant for schizophrenia were acquired and compared with 11 monozygotic and 11 same-gender dizygotic healthy control twin pairs. RESULTS...... in the monozygotic twin pairs. A decrease in gray matter was found in the patients compared with their co-twins and compared with the healthy twins. CONCLUSIONS: The results suggest that the decreases in white matter volume reflect the increased genetic risk to develop schizophrenia, whereas the decreases in gray...

  17. Candidate region linkage analysis in twins discordant or concordant for depression symptomatology

    DEFF Research Database (Denmark)

    Christiansen, Lene; Tan, Q; Kruse, T A

    2009-01-01

    Genetic risk factors contribute considerably to both clinical affective disorders and subsyndromal mood level. There is moreover evidence to suggest that the genetic basis of bipolar disorder and unipolar depression overlap to some extent, and several linkage analyses have suggested evidence...... for a common susceptibility locus in affective disorders on chromosome 12q24. In this study we investigated the chromosome 12 candidate region for linkage to the mean level of depression symptomatology, over a 10-year follow-up, using a highly informative sample of concordant and discordant twin pairs selected...

  18. Intrauterine growth characteristics of twins and those twins discordant birthweight%双胎及出生体质量不同一性双胎胎儿宫内生长发育的特点

    Institute of Scientific and Technical Information of China (English)

    韩振艳; 方群; 罗艳敏; 侯红瑛; 陈敏玲; 何志明; 宋花蕾

    2012-01-01

    Objective To investigate the intrauterine growth characteristics of twins and birthweight discordant twins (discordant twins ).Methods Total of 1010 twin pregnancies (2020 fetuses) with complete delivery records from the Department of Obstetrics and Gynecology,the First and Third Affiliated Hospital of SUN Yat-sen University between January 1,2000 and July 31,2010 were studied retrospectively.One handred and ninteen cases (238 fetuses) with intrapair birthweight difference ≥25% were determined as the discordant twins group,and the other 891 cases (1782 fetuses) with intrapair birthweight difference < 25% were identified as the concordant twins group.The singleton control group included 4042 singleton pregnancies in the same period.Results ( 1 ) Comparison of clinical data between the twins groups:the birthweight of larger-twin,smaller-twin and intrapair birthweight difference in the discordant twins group and the concordant twins group were ( 2090± 827 ) g,( 1392 ± 592 ) g,( 33.9 ±9.3 ) %,and ( 2408 ± 543 ) g,( 2191 ± 505 ) g,( 8.9 ± 6.5 ) %,respectively,with significant differences (P<0.01).The incidence of discordant twins was 11.78% (119/1010).Compared with the concordant twins group,the discordant twins group bad higher proportion of monochorionic twins,and higher prevalence of pregnancy complications such as late miscarriage,abnormal umbilical insertion,twin-twin transfusion syndrome and hypertensive disorders in pregnancy ( P < 0.05 ).( 2 ) The characteristics of twin birthweight distribution:① In all the 2020 twins,80.05% (1617/2020) fetuses had birthweight below the 50th percentile of the singleton control group,while 23.71% (479/2020) feeuses got birthweight below the 10th percentile of the singleton control group.② After 19th gestational week,the 50th and 90th percentile of all twins' birthweight were lower than those of singletons.After 38th gestational week,the birthweight of singletons kept increasing and reached its

  19. Xenotropic Murine Leukemia Virus-Related Virus in Monozygotic Twins Discordant for Chronic Fatigue Syndrome

    Science.gov (United States)

    Jerome, Keith R.; Diem, Kurt; Huang, Meei-Li; Selke, Stacy; Corey, Lawrence; Buchwald, Dedra

    2011-01-01

    A recent report suggested an association between xenotropic murine leukemia virus-related virus (XMRV) and chronic fatigue syndrome (CFS). If confirmed, this would suggest that antiretroviral therapy might benefit patients suffering from CFS. We validated a set of assays for XMRV, and evaluated the prevalence of XMRV in a cohort of monozygotic twins discordant for CFS. Stored PBMC were tested with 3 separate PCR assays (one of which was nested) for XMRV DNA, and serum/plasma was tested for XMRV RNA by reverse transcription (RT)-PCR. None of the PBMC samples from the twins with CFS or their unaffected co-twins were positive for XMRV, by any of the assays. One plasma sample, from an unaffected co-twin, was reproducibly positive by RT-PCR. However, serum from the same day was negative, as was a followup plasma sample obtained 2 days after the positive specimen. These data do not support an association of XMRV with CFS. PMID:21795004

  20. Discordance

    Science.gov (United States)

    Villa, I. M.; Hanchar, J. M.

    2013-12-01

    Half a century ago, discordant U-Pb ages of metamorphic zircon were viewed as Pb loss by diffusion. Various diffusionist schools of thought debated vigorously whether diffusion was episodic or continuous [1], but nobody questioned the reality of diffusive Pb loss. Only imaging by cathodoluminescence (CL) [2] and back-scattered electrons (BSE) [3] brought a paradigm change in U-Pb geochronology. In situ dating shows routinely accretion of young zircon rims onto older cores that never display Pb diffusion gradients across the interface. Other minerals (monazite, xenotime, etc.) show the same pattern: irregular patches of uniform age separated by sharp age gradients coinciding with petrologic boundaries. As U-Pb discordance is caused by diachronous, heterochemical mineral generations, zircon and monazite closure temperatures, and strict diffusionism, are irrelevant [4]. Knowing what to pay attention to, analytical protocols for U-Pb dating include both of the following: (i) CL/BSE characterization of phase mixtures; (ii) mass spectrometric analysis including U/Th ratios (and ideally trace element fingerprinting on the same fraction [5]). It is clear that the petrologic context is just as essential as mass spectrometry for accurate geochronology. The K-Ar community rarely uses imaging, and the tight context between microstructures, mineral chemistry, petrology and geochronology is missed. Yet the data would be clear if one looked for it. CL and/or BSE imaging and X-ray mapping of K-feldspar and micas is finding ubiquitous evidence of discrete patches of juxtaposed mineral generations. The Ca/Cl/K ratios in 39Ar-40Ar dating fulfill the same role as U/Th ratios in U-Pb dating for fingerprinting successive heterochemical mineral generations. Any linear correlation in a common-denominator three-isotope correlation diagram is certain evidence of binary mixing between heterochemical end-members. A correlation in a Ca/K vs Ar/K diagram requires two minerals having different

  1. Discordancia de peso al nacer: consecuencias y su perdurabilidad en el desarrollo psicológico del gemelo de menor peso intrapar (Intertwin birth weight discordance: its effects and their persistence in the psychological development of the lightest intrapair twin)

    OpenAIRE

    Elena Escolano-Pérez

    2015-01-01

    More twins are being born with intrapair birth weight discordances. Discordance in birth weight is a risk factor that can affect the development of twins, especially that of the lightest twin. However, few studies have analysed the possible consequences of birth weight discordance on the lightest twin beyond possible neonatal obstetric problems. Thus,little is known about the consequences of birth weight discordance on the psychological development of such babies.This article reviews the lite...

  2. Discordant tooth agenesis and peg-shaped in a pair of monozygotic twins: Clinical and molecular study

    Directory of Open Access Journals (Sweden)

    Lívia Azeredo Alves Antunes

    2013-01-01

    Full Text Available The present report aimed to study an uncommon case of a pair of twins that presented a discordant dental phenotype. Family investigation, clinical, radiographic examination and molecular analysis were performed in both girls. Molecular analysis confirmed the monozygosity by deoxyribonucleic acid chip technology. One twin presented tooth agenesis in left upper lateral incisor and peg-shaped on the contra lateral side while the other twin had no dental alterations. The dental casts study employed digital caliper to compare morphological dimensions and showed alteration only in peg-shaped tooth. In conclusion, this study provide support that one or more mutated gene could cause discordances in dental phenotype in these monozygotic twins.

  3. Major depressive disorder, suicidal ideation, and suicide attempt in twins discordant for cannabis dependence and early-onset cannabis use.

    Science.gov (United States)

    Lynskey, Michael T; Glowinski, Anne L; Todorov, Alexandre A; Bucholz, Kathleen K; Madden, Pamela A F; Nelson, Elliot C; Statham, Dixie J; Martin, Nicholas G; Heath, Andrew C

    2004-10-01

    Previous research has reported both a moderate degree of comorbidity between cannabis dependence and major depressive disorder (MDD) and that early-onset cannabis use is associated with increased risks for MDD. To examine whether associations between both lifetime cannabis dependence and early cannabis use and measures of MDD, suicidal ideation, and suicide attempt persist after controlling for genetic and/or shared environmental influences. Cross-sectional survey of twin pairs discordant for lifetime cannabis dependence and those discordant for early cannabis use. General population sample of twins (median age, 30 years). Two hundred seventy-seven same-sex twin pairs discordant for cannabis dependence and 311 pairs discordant for early-onset cannabis use (before age 17 years). Self-report measures of DSM-IV-defined lifetime MDD, suicidal ideation, and suicide attempt. Individuals who were cannabis dependent had odds of suicidal ideation and suicide attempt that were 2.5 to 2.9 times higher than those of their non-cannabis-dependent co-twin. Additionally, cannabis dependence was associated with elevated risks of MDD in dizygotic but not in monozygotic twins. Those who initiated cannabis use before age 17 years had elevated rates of subsequent suicide attempt (odds ratio, 3.5 [95% confidence interval, 1.4-8.6]) but not of MDD or suicidal ideation. Early MDD and suicidal ideation were significantly associated with subsequent risks of cannabis dependence in discordant dizygotic pairs but not in discordant monozygotic pairs. Comorbidity between cannabis dependence and MDD likely arises through shared genetic and environmental vulnerabilities predisposing to both outcomes. In contrast, associations between cannabis dependence and suicidal behaviors cannot be entirely explained by common predisposing genetic and/or shared environmental predispositions. Previously reported associations between early-onset cannabis use and subsequent MDD likely reflect shared genetic and

  4. Brain activation during cognitive planning in twins discordant or concordant for obsessive-compulsive symptoms.

    Science.gov (United States)

    den Braber, Anouk; van 't Ent, Dennis; Cath, Danielle C; Wagner, Judith; Boomsma, Dorret I; de Geus, Eco J C

    2010-10-01

    Neuroimaging studies have indicated abnormalities in cortico-striatal-thalamo-cortical circuits in patients with obsessive-compulsive disorder compared with controls. However, there are inconsistencies between studies regarding the exact set of brain structures involved and the direction of anatomical and functional changes. These inconsistencies may reflect the differential impact of environmental and genetic risk factors for obsessive-compulsive disorder on different parts of the brain. To distinguish between functional brain changes underlying environmentally and genetically mediated obsessive-compulsive disorder, we compared task performance and brain activation during a Tower of London planning paradigm in monozygotic twins discordant (n=38) or concordant (n=100) for obsessive-compulsive symptoms. Twins who score high on obsessive-compulsive symptoms can be considered at high risk for obsessive-compulsive disorder. We found that subjects at high risk for obsessive-compulsive disorder did not differ from the low-risk subjects behaviourally, but we obtained evidence that the high-risk subjects differed from the low-risk subjects in the patterns of brain activation accompanying task execution. These regions can be separated into those that were affected by mainly environmental risk (dorsolateral prefrontal cortex and lingual cortex), genetic risk (frontopolar cortex, inferior frontal cortex, globus pallidus and caudate nucleus) and regions affected by both environmental and genetic risk factors (cingulate cortex, premotor cortex and parts of the parietal cortex). Our results suggest that neurobiological changes related to obsessive-compulsive symptoms induced by environmental factors involve primarily the dorsolateral prefrontal cortex, whereas neurobiological changes induced by genetic factors involve orbitofrontal-basal ganglia structures. Regions showing similar changes in high-risk twins from discordant and concordant pairs may be part of compensatory

  5. Brain activation during cognitive planning in twins discordant or concordant for obsessive–compulsive symptoms

    Science.gov (United States)

    van ’t Ent, Dennis; Cath, Danielle C.; Wagner, Judith; Boomsma, Dorret I.; de Geus, Eco J. C.

    2010-01-01

    Neuroimaging studies have indicated abnormalities in cortico-striatal-thalamo-cortical circuits in patients with obsessive–compulsive disorder compared with controls. However, there are inconsistencies between studies regarding the exact set of brain structures involved and the direction of anatomical and functional changes. These inconsistencies may reflect the differential impact of environmental and genetic risk factors for obsessive–compulsive disorder on different parts of the brain. To distinguish between functional brain changes underlying environmentally and genetically mediated obsessive–compulsive disorder, we compared task performance and brain activation during a Tower of London planning paradigm in monozygotic twins discordant (n = 38) or concordant (n = 100) for obsessive–compulsive symptoms. Twins who score high on obsessive–compulsive symptoms can be considered at high risk for obsessive–compulsive disorder. We found that subjects at high risk for obsessive–compulsive disorder did not differ from the low-risk subjects behaviourally, but we obtained evidence that the high-risk subjects differed from the low-risk subjects in the patterns of brain activation accompanying task execution. These regions can be separated into those that were affected by mainly environmental risk (dorsolateral prefrontal cortex and lingual cortex), genetic risk (frontopolar cortex, inferior frontal cortex, globus pallidus and caudate nucleus) and regions affected by both environmental and genetic risk factors (cingulate cortex, premotor cortex and parts of the parietal cortex). Our results suggest that neurobiological changes related to obsessive–compulsive symptoms induced by environmental factors involve primarily the dorsolateral prefrontal cortex, whereas neurobiological changes induced by genetic factors involve orbitofrontal–basal ganglia structures. Regions showing similar changes in high-risk twins from discordant and concordant pairs may

  6. Global transcript profiles of fat in monozygotic twins discordant for BMI: pathways behind acquired obesity.

    Directory of Open Access Journals (Sweden)

    Kirsi H Pietiläinen

    2008-03-01

    Full Text Available BACKGROUND: The acquired component of complex traits is difficult to dissect in humans. Obesity represents such a trait, in which the metabolic and molecular consequences emerge from complex interactions of genes and environment. With the substantial morbidity associated with obesity, a deeper understanding of the concurrent metabolic changes is of considerable importance. The goal of this study was to investigate this important acquired component and expose obesity-induced changes in biological pathways in an identical genetic background. METHODS AND FINDINGS: We used a special study design of "clonal controls," rare monozygotic twins discordant for obesity identified through a national registry of 2,453 young, healthy twin pairs. A total of 14 pairs were studied (eight male, six female; white, with a mean +/- standard deviation (SD age 25.8 +/- 1.4 y and a body mass index (BMI difference 5.2 +/- 1.8 kg/m(2. Sequence analyses of mitochondrial DNA (mtDNA in subcutaneous fat and peripheral leukocytes revealed no aberrant heteroplasmy between the co-twins. However, mtDNA copy number was reduced by 47% in the obese co-twin's fat. In addition, novel pathway analyses of the adipose tissue transcription profiles exposed significant down-regulation of mitochondrial branched-chain amino acid (BCAA catabolism (p < 0.0001. In line with this finding, serum levels of insulin secretion-enhancing BCAAs were increased in obese male co-twins (9% increase, p = 0.025. Lending clinical relevance to the findings, in both sexes the observed aberrations in mitochondrial amino acid metabolism pathways in fat correlated closely with liver fat accumulation, insulin resistance, and hyperinsulinemia, early aberrations of acquired obesity in these healthy young adults. CONCLUSIONS: Our findings emphasize a substantial role of mitochondrial energy- and amino acid metabolism in obesity and development of insulin resistance.

  7. Fetal reduction by bipolar cord coagulation in managing complicated monochorionic multiple pregnancies: preliminary experience in China

    Institute of Scientific and Technical Information of China (English)

    HE Zhi-ming; FANG Qun; YANG Yong-zhong; LUO Yan-min; CHEN Jun-hong; CHEN Yong-zhen; ZHOU Yi; CHEN Min-ling

    2010-01-01

    Background Monochorionic multiple pregnancies (MMPs) are associated with higher rates of perinatal morbidity and mortality caused by interfetal vascular anastomoses in the monochorionic placenta, which can lead to fetal health interactions. In some circumstances, selective feticide of the affected fetus is necessary to save the healthy co-twin. We evaluated the effects and safety of our initial experiences using bipolar cord coagulation for the management of complicated MMPs. Methods Using ultrasound-guided bipolar cord coagulation, we performed selective feticide on 14 complicated MMPs (5 with twin-twin transfusion syndrome, 4 with acardia, 3 with discordant structural anomalies, and 2 with severe selective intrauterine growth restriction). One patient with monochorionic triplets received the procedure twice to terminate 2 affected fetuses for different indications. Data regarding the operations, complications and neonatal outcomes were analyzed. Results Cord occlusions were successfully performed in 13/14 (93%) cases. The failure happened in an acardiac fetus and the pregnancy was terminated by induction. The included cases delivered at a mean gestational age of 35.4 weeks with a perinatal survival rate of 11/13 (85%). Three operation-related complications occurred (21%), including membrane rupture of the terminated sac (1 case), preterm labor at 28 weeks gestation (1 case), and chorioamniotic membrane separation (1 case). Amnioinfusion was indicated in 11 procedures to expand the target sacs for entering the trocar and obtaining sufficient working space. However, in all 4 cases of acardia, the acardiac sacs showed extreme oligohydramnios and could not be well expanded by infusion; thus, the trocar had to be inserted from the sac of the preserved co-twin. Conclusions The application of bipolar cord coagulation in complicated MMPs is safe and improves the prognosis. Amnioinfusion is useful in helping to expand the target sac when the working space is limited.

  8. Leptin and adiponectin levels in discordant dichorionic twins at 72 hours of age-associations with anthropometric parameters and insulin resistance.

    Science.gov (United States)

    Milenković, Svetlana J; Mirković, Ljiljana B; Jovandarić, Miljana Z; Milenković, Dušan M; Banković, Violeta V; Janković, Borisav Z

    2017-04-01

    Insulin resistance (IR) in adults has been associated with intrauterine growth restriction (IUGR). Leptin and adiponectin correlations with anthropometric parameters and IR at 72 h in discordant twins were tested. We included 24 discordant (birth weight discordance ≥20% in relation to the heavier cotwin) and 30 concordant (birth weight discordance ≤10%) twins. A correlation between leptin (but not adiponectin) level and birth weight (BW), birth length and head circumference in IUGR twins was recorded (padiponectin and insulin associated positively. In larger concordant twins' leptin level correlated with HOMA-IR and insulin. Leptin, but not adiponectin, levels correlate positively with anthropometric parameters in IUGR twins. IR in IUGR twins is unrelated to adipokines in the first few days of life.

  9. From alcohol initiation to tolerance to problems: Discordant twin modeling of a developmental process.

    Science.gov (United States)

    Deutsch, Arielle R; Slutske, Wendy S; Lynskey, Michael T; Bucholz, Kathleen K; Madden, Pamela A F; Heath, Andrew C; Martin, Nicholas G

    2017-08-01

    The current study examined a stage-based alcohol use trajectory model to test for potential causal effects of earlier drinking milestones on later drinking milestones in a combined sample of two cohorts of Australian monozygotic and same-sex dizygotic twins (N = 7,398, age M = 30.46, SD = 2.61, 61% male, 56% monozygotic twins). Ages of drinking, drunkenness, regular drinking, tolerance, first nontolerance alcohol use disorder symptom, and alcohol use disorder symptom onsets were assessed retrospectively. Ages of milestone attainment (i.e., age-of-onset) and time between milestones (i.e., time-to-event) were examined via frailty models within a multilevel discordant twin design. For age-of-onset models, earlier ages of onset of antecedent drinking milestones increased hazards for earlier ages of onset for more proximal subsequent drinking milestones. For the time-to-event models, however, earlier ages of onset for the "starting" milestone decreased risk for a shorter time period between the starting and the "ending" milestone. Earlier age of onset of intermediate milestones between starting and ending drinking milestones had the opposite effect, increasing risk for a shorter time period between the starting and ending milestones. These results are consistent with a causal effect of an earlier age of drinking milestone onset on temporally proximal subsequent drinking milestones.

  10. Pyrosequencing of Plaque Microflora In Twin Children with Discordant Caries Phenotypes.

    Directory of Open Access Journals (Sweden)

    Meng Zhang

    Full Text Available Despite recent successes in the control of dental caries, the mechanism of caries development remains unclear. To investigate the causes of dental decay, especially in early childhood caries, the supragingival microflora composition of 20 twins with discordant caries phenotypes were analyzed using high-throughput pyrosequencing. In addition, the parents completed a lifestyle questionnaire. A total of 228,789 sequencing reads revealed 10 phyla, 84 genera, and 155 species of microflora, the relative abundances of these strains varied dramatically among the children, Comparative analysis between groups revealed that Veillonella, Corynebacterium and Actinomyces were presumed to be caries-related genera, Fusobacterium, Kingella and Leptotrichia were presumed to be healthy-related genus, yet this six genera were not statistically significant (P>0.05. Moreover, a cluster analysis revealed that the microbial composition of samples in the same group was often dissimilar but that the microbial composition observed in twins was usually similar. Although the genetic and environmental factors that strongly influence the microbial composition of dental caries remains unknown, we speculate that genetic factors primarily influence the individual's susceptibility to dental caries and that environmental factors primarily regulate the microbial composition of the dental plaque and the progression to caries. By using improved twins models and increased sample sizes, our study can be extended to analyze the specific genetic and environmental factors that affect the development of caries.

  11. Failure to Identify Somatic Mutations in Monozygotic Twins Discordant for Schizophrenia by Whole Exome Sequencing

    Institute of Scientific and Technical Information of China (English)

    Nan Lyu; Li-Li Guan; Hong Ma; Xi-Jin Wang; Bao-Ming Wu; Fan-Hong Shang; Dan Wang

    2016-01-01

    Background:Schizophrenia (SCZ) is a severe,debilitating,and complex psychiatric disorder with multiple causative factors.An increasing number of studies have determined that rare variations play an important role in its etiology.A somatic mutation is a rare form of genetic variation that occurs at an early stage of embryonic development and is thought to contribute substantially to the development of SCZ.The aim of the study was to explore the novel pathogenic somatic single nucleotide variations (SNVs) and somatic insertions and deletions (indels) of SCZ.Methods:One Chinese family with a monozygotic (MZ) twin pair discordant for SCZ was included.Whole exome sequencing was performed in the co-twin and their parents.Rigorous filtering processes were conducted to prioritize pathogenic somatic variations,and all identified SNVs and indels were further confirmed by Sanger sequencing.Results:One somatic SNV and two somatic indels were identified after rigorous selection processes.However,none was validated by Sanger sequencing.Conclusions:This study is not alone in the failure to identify pathogenic somatic variations in MZ twins,suggesting that exonic somatic variations are extremely rare.Further efforts are warranted to explore the potential genetic mechanism of SCZ.

  12. Levels of Adipokines in Amniotic Fluid and Cord Blood Collected from Dichorionic-Diamniotic Twins Discordant for Fetal Growth.

    Directory of Open Access Journals (Sweden)

    Seung Mi Lee

    Full Text Available To compare the concentrations of adipokines in amniotic fluid (AF and cord blood collected from discordant dichorionic-diamniotic (DCDA twin fetuses.The study population included DCDA twins discordant for fetal growth (birth weight difference >10% who either underwent mid-trimester amniocentesis for routine clinical indication (Cohort 1 or whose amniotic fluid was collected at the time of delivery (Cohort 2. In both cohorts, cord blood was collected at delivery.A total of 92 twin pairs were enrolled (n = 49 in Cohort 1; n = 43 in Cohort 2. In Cohort 1, the concentrations of adiponectin (median, 68.5 ng/mL vs 61.4 ng/mL; p<0.05 and leptin (median, 13.9 ng/mL vs 11.2 ng/mL; p<0.1 in mid-trimester AF were significantly higher in smaller compared with larger twins. In Cohort 2, the concentration of serpin E1 (median, 246.0 ng/mL vs 182.8 ng/mL; p<0.01 in AF at delivery was significantly higher in smaller twins, but no difference was noted in adiponectin and leptin concentrations. Levels of adiponectin (median, 10425.5 ng/mL vs 11552.0 ng/mL; p<0.005 and leptin (median, 2.1 ng/mL vs 2.6 ng/mL; p<0.005 were significantly lower in the cord blood of smaller twins whereas cord blood concentrations of serpin E1 (median, 15.5 ng/mL vs 13.3 ng/mL; p<0.05 was higher in the smaller twins.In discordant DCDA twin pairs, concentrations of adiponectin, leptin, and serpin E1 in mid-trimester AF, AF at delivery, and cord blood at birth vary significantly but predictably between the smaller and larger twins.

  13. Brain Activation during Memory Encoding in Type 2 Diabetes Mellitus: A Discordant Twin Pair Study

    Directory of Open Access Journals (Sweden)

    Amanda G. Wood

    2016-01-01

    Full Text Available Type 2 diabetes mellitus increases the risk of dementia and neuronal dysfunction may occur years before perceptible cognitive decline. We aimed to study the impact of type 2 diabetes on brain activation during memory encoding in middle-aged people, controlling for age, sex, genes, and early-shared environment. Twenty-two twin pairs discordant for type 2 diabetes mellitus (mean age 60.9 years without neurological disease were recruited from the Australian Twin Registry (ATR and underwent functional magnetic resonance imaging (fMRI during a memory encoding task, cognitive tests, and structural MRI. Type 2 diabetes was associated with significantly reduced activation in left hemisphere temporoparietal regions including angular gyrus, supramarginal gyrus, and middle temporal gyrus and significantly increased activation in bilateral posteriorly distributed regions. These findings were present in the absence of within-pair differences in standard cognitive test scores, brain volumes, or vascular lesion load. Differences in activation were more pronounced among monozygotic (MZ pairs, with MZ individuals with diabetes also displaying greater frontal activation. These results provide evidence for preclinical memory-related neuronal dysfunction in type 2 diabetes. They support the search for modifiable later-life environmental factors or epigenetic mechanisms linking type 2 diabetes and cognitive decline.

  14. Dermatoglyphics in relation to brain volumes in twins concordant and discordant for bipolar disorder.

    Science.gov (United States)

    Vonk, R; van der Schot, A C; van Baal, G C M; van Oel, C J; Nolen, W A; Kahn, R S

    2014-12-01

    Palmar and finger dermatoglyphics are formed between the 10th and the 17th weeks of gestation and their morphology can be influenced by genetic or environmental factors, interfering with normal intrauterine development. As both the skin and the brain develop from the same embryonal ectoderm, dermatoglyphic alterations may be informative for early abnormal neurodevelopmental processes in the brain. We investigated whether dermatoglyphic alterations are related to structural brain abnormalities in bipolar disorder and to what extent they are of a genetic and of an environmental origin. Dermatoglyphics and volumetric data from structural MRI were obtained in 53 twin pairs concordant or discordant for bipolar disorder and 51 healthy matched control twin pairs. Structural equation modeling was used. Bipolar disorder was significantly positively associated with palmar a-b ridge count (ABRC), indicating higher ABRC in bipolar patients (rph=.17 (CI .04-.30)). Common genes appear to be involved because the genetic correlation with ABRC was significant (rph-A=.21 (CI .05-.36). Irrespective of disease, ABRC showed a genetically mediated association with brain volume, indicated by a significant genetic correlation rph-A of respectively -.36 (CI -.52 to -.22) for total brain, -.34 (CI -.51 to -.16) total cortical volume, -.27 (CI -.43 to -.08) cortical gray matter and -.23 (CI -.41 to -.04) cortical white matter. In conclusion, a genetically determined abnormal development of the foetal ectoderm between the 10th and 15th week of gestation appears related to smaller brain volumes in (subjects at risk for) bipolar disorder.

  15. 双胎妊娠生长不一致对新生儿甲状腺功能的影响%Effects of growth-discordant twin pregnancies on thyroid function of neonates

    Institute of Scientific and Technical Information of China (English)

    陈怡博; 余颀; 陈志央; 庄丹燕; 潘婕文; 王飞; 卢文波

    2016-01-01

    性甲低的概率较大.%Objective To investigate the effects of growth-discordant twin pregnancies on neonatal thyroid stimulating hormone (TSH) level and congenital hypothyroidism (CH).Methods A total of 3 444 live-birth twin neonates born between January 1,2012 and December 30,2014 in Ningbo City were enrolled.Blood samples via heel puncture were collected and tested.Incidence of CH in singleton and twin neonates was compared.Deviation of birth weight larger than 25% in twin neonates was set as the criteria for discordant growth.TSH and 17 α-hydroxylase levels in CH twins and normal twins,with or without discordant growth,were compared.Chi-square and non-parametric statistics were performed for data analysis.Results The incidence of CH in twin neonates was 0.56% (19/3 444),higher than that in singleton neonates [0.09% (203/225 712),x2=76.225,P<0.01].Among nineteen CH twins,CH occurred in both twins in eight cases (four twins) and in one of the twins in eleven cases.The gestational age at birth in the eight CH twins were less than 37 weeks,with four males and four females;five were low birth weight infants;one twin were dichorionic,and three twins were monochorionic.In the eleven cases of CH occurring in one of the twins,the gestational age was less than 37 weeks in nine cases,eight were low birth weight infants,six were male and five female;seven were monochorionic and four were dichoronic twins.Five cases of temporary hypothyroidism were all low birth weight infants among the growth-discordant twins.CH cases in growth-discordant group had lower birth weight than their normal twins [M(P25-P75),2 100 (1 800-2 600) vs 2 770 (2 530-2 960) g,Z=4.369],and a higher TSH level [15.4 (11.8-18.5) vs 6.4 (4.8-7.9) mU/L,Z=6.339] (both P<0.05).In normal twins with or without discordant growth,the neonates with a lower birth weight had a higher TSH level [3.6(2.5-4.7) vs 2.4(1.8-2.9) mU/L,Z=0.962] in weight consistent group,compared with 6.0(4.4-7.8) vs 3.4(1.9-4.1) mU/L in weight inconsistent group

  16. Generalized Arterial Calcification in a Recipient Twin: Discordant Fetal Hemodynamics Result in Differing Phenotypes in Monozygotic Twins with an ABCC6 Mutation.

    Science.gov (United States)

    Votava-Smith, Jodie K; Pitukcheewanont, Pisit; Randolph, Linda M; Chmait, Ramen H

    2017-01-01

    Recipients of the twin-twin transfusion syndrome (TTTS) often develop cardiac manifestations, but arterial calcification has rarely been reported. Generalized arterial calcification of infancy (GACI) is a genetic disorder with high infantile mortality. We report the case of a TTTS recipient with moderate cardiomyopathy at diagnosis who developed progressive calcification of the pulmonary arteries and aorta after successful in utero laser therapy. Postnatally, both twins were diagnosed with a heterozygous ABCC6 gene mutation associated with GACI. The recipient had progressive supravalvular pulmonary and aortic stenosis, was treated with bisphosphonate therapy, and successfully underwent cardiac surgery at 4 months of age. The donor twin with the same mutation remained phenotypically normal at 15 months of age. This case illustrates monozygotic fetuses with discordant in utero hemodynamics, with subsequent development of phenotypic differences. TTTS recipients with arterial calcifications should undergo genetic testing for GACI. © 2016 S. Karger AG, Basel.

  17. Genome-wide blood DNA methylation alterations at regulatory elements and heterochromatic regions in monozygotic twins discordant for obesity and liver fat

    OpenAIRE

    Ollikainen, M; Ismail, K.; Gervin, Kristina; Harris, Jennifer; Lyle, Robert

    2015-01-01

    Background: The current epidemic of obesity and associated diseases calls for swift actions to better understand the mechanisms by which genetics and environmental factors affect metabolic health in humans. Monozygotic (MZ) twin pairs showing discordance for obesity suggest that epigenetic influences represent one such mechanism. We studied genome-wide leukocyte DNA methylation variation in 30 clinically healthy young adult MZ twin pairs discordant for body mass index (BMI; average within-pai...

  18. Monoamniotic twins discordant for anencephaly managed conservatively with good outcomes: two case reports and a review of the literature.

    Science.gov (United States)

    Lim, K I; Dy, C; Pugash, D; Williams, K P

    2005-08-01

    Monoamniotic twin pregnancy discordant for anencephaly (MATDA) is a rare occurrence with only seven prior reported cases. Selective termination has been advocated in managing discordant monoamniotic twins. We report two cases managed expectantly with good outcomes and review other previously reported cases. The first case was a primigravid woman diagnosed with MATDA at 18 weeks. She was managed expectantly until 32 + 5 weeks when a Cesarean section was performed for preterm labor. The surviving female infant weighed 1610 g. The second case was a multigravid woman who was diagnosed with MATDA at 17 + 5 weeks and was managed as an outpatient. An emergency Cesarean section was performed at 31 weeks for non-reassuring monitoring and the surviving male infant weighed 1790 g. In both cases, the survivors were discharged home in good condition. A review of these two cases and those in the literature suggests that expectant management should be considered among management options for this rare condition.

  19. Twins reunited: scientific and personal perspectives/twin research studies: multiple birth effects on IQ and body size; life style, muscles, and metabolism; monochorionic dizygotic twin with blood chimerism; amniocentesis for twins/twins in the media: identical doctors; freedom fighter for twins; twin scholarships; Auguste and Jean-Felix Piccard; twins born apart.

    Science.gov (United States)

    Segal, Nancy L; Mulligan, Christy A

    2014-04-01

    A reunion of 38-year-old female monozygotic twins took place in Daegu, South Korea, on January 14, 2014. Scientific and personal perspectives on this extraordinary event are provided. A review of timely twin research follows, covering the effects of multiple births on IQ and body size, lifestyle and physical fitness associations, a rare case of a dizygotic twin with blood chimerism and definitional issues surrounding amniocentesis-related loss in multiple birth pregnancies. Interesting and informative mention of twins in the media includes twin doctors, a twin freedom fighter, the availability of college scholarships for twins, a new book about the Piccard family (two of whose members were twins), and co-twins born before and after the new year. A follow-up to a previous mention of identical twin biatheletes is also provided.

  20. Color-dye injection of monochorionic placentas and correlation with pregnancy complications.

    Science.gov (United States)

    Lanna, Mariano Matteo; Consonni, Dario; Faiola, Stefano; Schena, Vito; Ratti, Martina; Ferrazzi, Enrico; Rustico, Maria Angela

    2015-10-01

    Vascular anastomoses in monochorionic (MC) twin placenta can be easily identified with color-dye injection. The aim of this study is to analyze the relationship between different type of anastomoses and twin pregnancy complications. From January 2011 to October 2014, MC placentas were analyzed with color-dye injection and five group of pregnancies were identified: those that were not complicated (NC), those complicated with selective intrauterine growth restriction (sIUGR), twin-twin transfusion syndrome (TTTS), or twin anemia-polycitemia sequence (TAPS) and those with amniotic fluid discordance (AFD) between twins. Cases of TTTS treated with endoscopic laser coagulation of placenta anastomoses or cases with in utero death of one twin were excluded. A total of 118 MC placentas were observed, 58 (49%) NC, 35 (30%) sIUGR, 10 (8%) TTTS, 13 (11%) AFD and 2 (2%) TAPS. The median number of anastomoses was 7 (range 1-15), 8 (2-18), 4 (2-11), 7 (2-13) and 1 (1-1), respectively. At least one artero-venous anastomoses was found in the placenta observed, while the prevalence of artero-arterial anastomoses was 95% for NC, 91% for sIUGR, 60% for TTTS, and 77% for AFD; no TAPS placenta had this type of anastomoses. The diameter of arteroarterial anastomoses was greater in the AFD group (3.3 mm), compared to the NC, sIUGR and TTTS groups (2.3, 2.5 and 1.4 respectively, p 0.04). In this large serie of MC placenta analyzed with color-dye injection, a specific distribution of anastomoses emerged for twins with amniotic fluid discordance, which points to a need for intensive surveillance. Copyright © 2015 Elsevier Ltd. All rights reserved.

  1. Obstetric outcomes of monochorionic pregnancies conceived following assisted reproductive technology: A retrospective study

    Directory of Open Access Journals (Sweden)

    Mariano Mascarenhas

    2014-01-01

    Full Text Available Objectives : The overwhelming numbers of twins following assisted reproductive technology (ART are dichorionic twins, but monochorionic twins account for around 0.9% of post ART pregnancies. The data for post ART-monochorionic pregnancy outcomes are scarce due to the rarity of this condition. Hence, we evaluated the obstetric outcomes of monochorionic and dichorionic pregnancies conceived on ART. Settings : University teaching hospital. Study Design : A case-control study of monochorionic diamniotic (MCDA and dichorionic diamniotic (DCDA pregnancies conceived following ART treatment. Charts of all women who conceived following ART from 2008 to 2013 were screened. Among them, the monochorionic twins diagnosed in the first trimester were included and their obstetric outcome was followed-up. For comparison, an equal number of dichorionic twin pregnancies from age and body mass index matched mothers was selected. Results : The baseline clinical characteristics were similar between the two groups. MCDA group had a higher miscarriage rate (50% than the DCDA group (10%, with three seconds trimester miscarriages in the MCDA group. The live birth rates were lower in the MCDA versus DCDA group (40% vs. 90%. Among triplet pregnancies with a monochorionic component, the live birth rate was only 25%. Conclusions : Monochorionic pregnancies following ART have poorer obstetric outcomes when compared to dichorionic pregnancies. For monochorionic pregnancies following ART, intensive antenatal surveillance at a tertiary level obstetric and neonatal center may help optimize the outcome.

  2. Divergent frequencies of IGF-I receptor-expressing blood lymphocytes in monozygotic twin pairs discordant for Graves' disease: evidence for a phenotypic signature ascribable to nongenetic factors

    DEFF Research Database (Denmark)

    Douglas, Raymond S; Brix, Thomas H; Hwang, Catherine J

    2009-01-01

    Twin Registry, including seven discordant pairs, four pairs concordant for GD, and seven healthy pairs. MAIN OUTCOME MEASURES: Subjects underwent physical examination and laboratory analysis. Surface display of IGF-IR on T and B cells was analyzed by flow cytometry. RESULTS: Twins with GD display...

  3. História natural das gestações gemelares monocoriônicas diamnióticas com e sem transfusão feto-fetal Natural history of monochorionic diamniotic twin pregnancies with and without twin-twin transfusion syndrome

    Directory of Open Access Journals (Sweden)

    Cleisson Fábio Andrioli Peralta

    2009-06-01

    Full Text Available OBJETIVO: avaliar a evolução de gestações gemelares monocoriônicas diamnióticas com e sem síndrome de transfusão feto-fetal (STFF, acompanhadas de forma expectante. MÉTODOS: estudo retrospectivo no qual as gestações sem e com STFF e com as formas leve (estágio I de Quintero e grave (estágios II, III, IV e V de Quintero da doença foram comparadas quanto a parto pré-termo extremo, comprometimento neurológico e alta dos gêmeos do berçário. Os gêmeos pré-termo extremo que tiveram ou não STFF foram comparados quanto à ocorrência de comprometimento neurológico. Foram utilizados os testes do χ2 ou exato de Fisher. RESULTADOS: quinze entre 149 gestações gemelares monocoriônicas diamnióticas apresentaram STFF, 11 (11/15-73,3% na forma grave e 4 (4/15-26,7% no estágio I. O parto pré-termo extremo foi mais frequente (pPURPOSE: to evaluate the evolution of monochorionic-diamniotic twin pregnancies with and without the twin-twin transfusion syndrome (TTTS, followed up in an expectant way. METHODS: retrospective study in which the pregnancies with and without TTTS and with mild (Quintero's stage I and severe (Quintero's stages II, III, IV and V disease manifestations were compared according to extreme preterm delivery, neurological impairment and the twins' nursery discharge. The extreme preterm twins who had had TTTS, or not, were compared whether they had or not neurological impairment. The χ2 or Fisher's exact test were used. RESULTS: among 149 monochorionic-diamniotic twin pregnancies, 15 presented TTTS, 11 (11/15 - 73.3% in the severe form and 4 (4/15 - 26.7% at stage I. The extreme preterm delivery was more frequent (p<0.001 in the cases with the disease (11/15 - 73.3% than in the cases without it (25/134 - 18.7%, and more common (p=0.033 in severe (10/11 - 91.1% than in mild cases (1/4 - 25.0%. Neurological impairment in at least one twin was more frequent in cases with (5/8 - 62.5% than in cases without (9/134 - 6

  4. Gray and white matter volume abnormalities in monozygotic and same-gender dizygotic twins discordant for schizophrenia

    DEFF Research Database (Denmark)

    Hilshoff, Hilleke E.; Brans, Rachel G. H.; van Haren, Neeltje E. M.;

    2004-01-01

    BACKGROUND: Whole brain tissue volume decreases in schizophrenia have been related to both genetic risk factors and disease-related (possibly nongenetic) factors; however, whether genetic and environmental risk factors in the brains of patients with schizophrenia are differentially reflected in g...... matter volume are related to environmental risk factors. Study of genes involved in the (maintenance) of white matter structures may be particularly fruitful in schizophrenia......BACKGROUND: Whole brain tissue volume decreases in schizophrenia have been related to both genetic risk factors and disease-related (possibly nongenetic) factors; however, whether genetic and environmental risk factors in the brains of patients with schizophrenia are differentially reflected...... in gray or white matter volume change is not known. METHODS: Magnetic resonance imaging (1.5 T) brain scans of 11 monozygotic and 11 same-gender dizygotic twin pairs discordant for schizophrenia were acquired and compared with 11 monozygotic and 11 same-gender dizygotic healthy control twin pairs. RESULTS...

  5. Differences in frontal and limbic brain activation in a small sample of monozygotic twin pairs discordant for severe stressful life events

    Directory of Open Access Journals (Sweden)

    Detre A. Godinez

    2016-12-01

    Full Text Available Monozygotic twin pairs provide a valuable opportunity to control for genetic and shared environmental influences while studying the effects of nonshared environmental influences. The question we address with this design is whether monozygotic twins selected for discordance in exposure to severe stressful life events during development (before age 18 demonstrate differences in brain activation during performance of an emotional word-face Stroop task. In this study, functional magnetic resonance imaging was used to assess brain activation in eighteen young adult twins who were discordant in exposure to severe stress such that one twin had two or more severe events compared to their control co-twin who had no severe events. Twins who experienced higher levels of stress during development, compared to their control co-twins with lower stress, exhibited significant clusters of greater activation in the ventrolateral and medial prefrontal cortex, basal ganglia, and limbic regions. The control co-twins showed only the more typical recruitment of frontoparietal regions thought to be important for executive control of attention and maintenance of task goals. Behavioral performance was not significantly different between twins within pairs, suggesting the twins with stress recruited additional neural resources associated with affective processing and updating working memory when performing at the same level. This study provides a powerful glimpse at the potential effects of stress during development while accounting for shared genetic and environmental influences.

  6. Increased frequency of micronuclei in adults with a history of childhood sexual abuse: a discordant monozygotic twin study.

    Directory of Open Access Journals (Sweden)

    Timothy P York

    Full Text Available BACKGROUND: Childhood sexual abuse (CSA is a traumatic life event associated with an increased lifetime risk for psychopathology/morbidity. The long-term biological consequences of CSA-elicited stress on chromosomal stability in adults are unknown. The primary aim of this study was to determine if the rate of acquired chromosomal changes, measured using the cytokinesis-block micronucleus assay on stimulated peripheral blood lymphocytes, differs in adult female monozygotic twins discordant for CSA. METHODS: Monozygotic twin pairs discordant for CSA were identified from a larger population-based sample of female adult twins for whom the experience of CSA was assessed by self-report (51 individuals including a reference sample. Micronuclei (MN contain chromatin from structurally normal or abnormal chromosomes that are excluded from the daughter nuclei during cell division and serve as a biomarker to assess acquired chromosomal instability. RESULTS: Female twins exposed to CSA exhibited a 1.63-fold average increase in their frequency of MN compared to their nonexposed genetically identical cotwins (Paired t-test, t₁₆ = 2.65, P = 0.017. No additional effects of familial factors were detected after controlling for the effect of CSA exposure. A significant interaction between CSA history and age was observed, suggesting that the biological effects of CSA on MN formation may be cumulative. CONCLUSIONS: These data support a direct link between CSA exposure and MN formation measured in adults that is not attributable to genetic or environmental factors shared by siblings. Further research is warranted to understand the biological basis for the observed increase in acquired chromosomal findings in people exposed to CSA and to determine if acquired somatic chromosomal abnormalities/somatic clonal mosaicism might mediate the adult pathology associated with CSA.

  7. Differentially methylated DNA regions in monozygotic twin pairs discordant for rheumatoid arthritis.An epigenome - wide study.

    Directory of Open Access Journals (Sweden)

    Anders Jørgen Svendsen

    2016-11-01

    Full Text Available Objectives: In an explorative epigenome-wide association study (EWAS to search for gene independent, differentially methylated DNA positions (DMPs and regions (DMRs associated with rheumatoid arthritis (RA by studying monozygotic (MZ twin pairs discordant for rheumatoid arthritis.Methods: Genomic DNA was isolated from whole blood samples from 28 monozygotic (MZ twin pairs discordant for RA. DNA methylation was measured using the HumanMethylation450 BeadChips. Smoking, anti-cyclic citrullinated peptide antibodies and immunosuppressive treatment were included as covariates. Pathway analysis was performed using GREAT.Results: Smoking was significantly associated with hypomethylation of a DMR overlapping the promoter region of the RNF5 and the AGPAT1, which are implicated in inflammation and autoimmunity, whereas DMARD treatment induced hypermethylation of the same region. Additionally, the promotor region of both S100A6 and EFCAB4B were hypomethylated and both genes have previously been associated with RA. We replicated several candidate genes identified in a previous EWAS in treatment naïve RA singletons. Gene set analysis indicated the involvement of immunologic signatures and cancer-related pathways in RA.Conclusion: We identified several differentially methylated regions associated with RA which may represent environmental effects or consequences of the disease and plausible biological pathways pertinent to the pathogenesis of rheumatoid arthritis

  8. Genome-wide analysis of DNA methylation, copy number variation, and gene expression in monozygotic twins discordant for primary biliary cirrhosis

    Directory of Open Access Journals (Sweden)

    Carlo eSelmi

    2014-03-01

    Full Text Available Primary biliary cirrhosis (PBC is an uncommon autoimmune disease with a homogeneous clinical phenotype that reflects incomplete disease concordance in monozygotic (MZ twins. We have taken advantage of a unique collection consisting of genomic DNA and mRNA from peripheral blood cells of female MZ twins (n=3 sets and sisters of similar age (n=8 pairs discordant for disease. We performed a genome-wide study to investigate differences in (i DNA methylation (using a custom tiled 4-plex array containing tiled 50-mers 19,084 randomly chosen methylation sites, (ii copy number variation (CNV (with a chip including markers derived from the 1000 Genomes Project, all three HapMap phases, and recently published studies, and/or (iii gene expression (by whole-genome expression arrays. Based on the results obtained from these three approaches we utilized quantitative PCR to compare the expression of candidate genes. Importantly, our data support consistent differences in discordant twins and siblings for the (i methylation profiles of 60 gene regions, (ii CNV of 10 genes, and (iii the expression of 2 interferon-dependent genes. Quantitative PCR analysis showed that 17 of these genes are differentially expressed in discordant sibling pairs. In conclusion, we report that MZ twins and sisters discordant for PBC manifest particular epigenetic differences and highlight the value of the epigenetic study of twins.

  9. Gene Expression Profiles from Disease Discordant Twins Suggest Shared Antiviral Pathways and Viral Exposures among Multiple Systemic Autoimmune Diseases.

    Science.gov (United States)

    Gan, Lu; O'Hanlon, Terrance P; Lai, Zhennan; Fannin, Rick; Weller, Melodie L; Rider, Lisa G; Chiorini, John A; Miller, Frederick W

    2015-01-01

    Viral agents are of interest as possible autoimmune triggers due to prior reported associations and widely studied molecular mechanisms of antiviral immune responses in autoimmunity. Here we examined new viral candidates for the initiation and/or promotion of systemic autoimmune diseases (SAID), as well as possible related signaling pathways shared in the pathogenesis of those disorders. RNA isolated from peripheral blood samples from 33 twins discordant for SAID and 33 matched, unrelated healthy controls was analyzed using a custom viral-human gene microarray. Paired comparisons were made among three study groups-probands with SAID, their unaffected twins, and matched, unrelated healthy controls-using statistical and molecular pathway analyses. Probands and unaffected twins differed significantly in the expression of 537 human genes, and 107 of those were associated with viral infections. These 537 differentially expressed human genes participate in overlapping networks of several canonical, biologic pathways relating to antiviral responses and inflammation. Moreover, certain viral genes were expressed at higher levels in probands compared to either unaffected twins or unrelated, healthy controls. Interestingly, viral gene expression levels in unaffected twins appeared intermediate between those of probands and the matched, unrelated healthy controls. Of the viruses with overexpressed viral genes, herpes simplex virus-2 (HSV-2) was the only human viral pathogen identified using four distinct oligonucleotide probes corresponding to three HSV-2 genes associated with different stages of viral infection. Although the effects from immunosuppressive therapy on viral gene expression remain unclear, this exploratory study suggests a new approach to evaluate shared viral agents and antiviral immune responses that may be involved in the development of SAID.

  10. 双绒毛膜及单绒毛膜双胎与妊娠期并发症及围生儿结局分析%Pregnancy Complications and Perinatal Outcomes of Monochorionic and Dichorionic Twin Pregnancy

    Institute of Scientific and Technical Information of China (English)

    周艳; 徐丽玲; 汪平; 吴琼蔚; 陈雯霞; 金皖玲

    2012-01-01

    目的:探讨双胎妊娠绒毛膜性对孕妇妊娠期并发症及围生儿预后的影响及意义.方法:对我院定期随诊并分娩的472例双胎临床资料进行回顾性分析,根据绒毛膜性分为单绒毛膜双羊膜囊组(MCDA组)和双绒毛膜双羊膜囊组(DCDA组),对两组孕妇的分娩孕周、并发症以及围生儿预后等进行比较分析.结果:两组孕产妇妊娠并发症的发生率比较,差异无统计学意义(P>0.05).MCDA组低出生体重儿、极低出生体重儿、新生儿窒息及围生儿死亡的发生率均明显高于DCDA组,其差异有统计学意义(P<0.05),MCDA组中双胎输血综合征发生率为7.32%.结论:绒毛膜性对孕妇妊娠并发症的发生无明显影响,而双胎孕妇于孕早期行B超检查诊断单绒毛膜或双绒毛膜对预测围生儿预后具有重要意义.尽早确定双胎类型,加强对单绒毛膜双胎的监护及干预,是改善胎儿和新生儿预后的关键.%Objective:To investigate the clinical diagnostic significance of chorion properties. Methods: Retrospective analysis of the clinical data including gestational weeks, complications and perinatal outcomes of 472 twin pregnancies was done in Shanghai Changning Maternity and Infant Health Hospital. All the cases were divided into monochorionic diamnionic(MCDA) group and dichorionic diamnionic( DCDA ) group. Results: There was no statistically significant differences in complications between two groups (P>0.05). The incidences of low birth weight infant,extreme low birth weight infant, neonatal asphyxia and perinatal mortality in MCDA group were significantly higher than those in DCDA group (P < 0.05). The incidence of twin-twin transfusion syndrome(TTTS) in MCDA group was 7. 32%. Conclusions:Chorion properties make no difference in twin pregnancy complications. Differentiation between monochorionic and dichorionic twin pregnancy in first trimester of pregnancy by ultrasonography is very important in forecasting the

  11. iPSC-Derived Dopamine Neurons Reveal Differences between Monozygotic Twins Discordant for Parkinson’s Disease

    Directory of Open Access Journals (Sweden)

    Chris M. Woodard

    2014-11-01

    Full Text Available Parkinson’s disease (PD has been attributed to a combination of genetic and nongenetic factors. We studied a set of monozygotic twins harboring the heterozygous glucocerebrosidase mutation (GBA N370S but clinically discordant for PD. We applied induced pluripotent stem cell (iPSC technology for PD disease modeling using the twins’ fibroblasts to evaluate and dissect the genetic and nongenetic contributions. Utilizing fluorescence-activated cell sorting, we obtained a homogenous population of “footprint-free” iPSC-derived midbrain dopaminergic (mDA neurons. The mDA neurons from both twins had ∼50% GBA enzymatic activity, ∼3-fold elevated α-synuclein protein levels, and a reduced capacity to synthesize and release dopamine. Interestingly, the affected twin’s neurons showed an even lower dopamine level, increased monoamine oxidase B (MAO-B expression, and impaired intrinsic network activity. Overexpression of wild-type GBA and treatment with MAO-B inhibitors normalized α-synuclein and dopamine levels, suggesting a combination therapy for the affected twin.

  12. The Discordant MZ-Twin Method: One Step Closer to the Holy Grail of Causality

    Science.gov (United States)

    Vitaro, Frank; Brendgen, Mara; Arseneault, Louise

    2009-01-01

    Twin studies are well known for their value in quantifying the contribution of genes to population variation in behaviors and personality traits. Twin studies also provide a unique opportunity to untangle the contribution of environmental experiences to emotional and behavioral development. This is particularly true when examining monozygotic (MZ)…

  13. Subclinical psychopathology and socio-economic status in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Vinberg Christensen, Maj; Kyvik, Kirsten Ohm; Vedel Kessing, Lars

    2006-01-01

    work position and tendency towards being more often unemployed and early retired than the Low-Risk twins. Furthermore, they presented higher rates of subclinical affective symptoms and were more likely to experience a minor psychiatric diagnosis. CONCLUSION: Healthy twins with a high genetic liability...

  14. Subclinical psychopathology and socio-economic status in unaffected twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Vinberg Christensen, Maj; Kyvik, Kirsten Ohm; Vedel Kessing, Lars

    2006-01-01

    to affective disorder seem to present lower socio-economic status, higher rates of subclinical affective symptoms and more often experience a minor psychiatric diagnosis than twins with no familial history of affective disorder. It is not possible from the present cross-sectional data to determine......BACKGROUND: The most potent risk factor for affective disorders is a family history of affective disorder but the specific factors that are transmitted in families are unknown. It is possible to investigate the relation between risk factors and affective disorder by using a high-risk design e.......g.: a study of the healthy relatives of patients with affective disorders. AIM: To compare psychopathology and socio-economic status between twins with a co-twin history of affective disorder and twins without. METHODS: In a cross-sectional high-risk case-control study, healthy monozygotic and dizygotic twins...

  15. 单绒毛膜单羊膜囊双胎妊娠17例临床分析%Monochorionic monoamniotic twin pregnancy: a review of 17 cases

    Institute of Scientific and Technical Information of China (English)

    邵长香; 孙路明; 邹刚; 孙琦; 周奋翮; 周艳

    2014-01-01

    Objective To review the diagnosis,monitoring,management and perinatal outcomes of monochorionic monoamniotic (MCMA) twin pregnancy.Methods From July 2010 to August 2013,there were 17 MCMA twin pregnancies diagnosed and delivered in Shanghai First Maternity and Infant Hospital.According to the MCMA management protocol,induced abortion,elective fetal reduction,and anticipant pregnancy were optional.For those anticipant pregnancies,fetal lung underwent maturation promotion at gestational weeks 28; hospitalization with 40 min/day continual fetal electronic monitoring and umbilical blood monitoring twice weekly at gestational weeks 28-30; 40 min continual fetal electronic monitoring twice daily and umbilical blood monitoring once every other day at gestational weeks 30-32; and 40 min continual fetal electronic monitoring three times daily and umbilical blood monitoring once daily at gestational weeks 32-34; and pregnancy ended on time.The presence of umbilical cord entanglement,congenital malformation,intrauterine fetal death,complications exclusive to monochorionic twins (e.g.selective fetal growth restriction,twin reversed arterial perfusion sequence and twin-twin transfusion syndrome) and the perinatal outcomes were retrospectively analyzed.Results Average maternal age of women with 17 MCMA twins was (29.0±2.7) years,and all were primiparas.They were diagnosed at (18.6± 5.5) weeks on average (11 +5-28+1 weeks).Umbilical cord entanglements were detected in all cases by ultrasonography and confirmed postnatally.There were three cases of complications specific to monochorionic twins,including two with selective fetal growth restriction and one with twin reversed arterial perfusion sequence.There were seven women with fetal congenital malformation; four of whom chose induced abortion; one case of anencephaly chose radiofrequency ablation fetal reduction,and the remaining two cases with congenital malformation and ten cases without chose anticipant pregnancy,and there

  16. Long-term follow-up and analysis of monozygotic twins concordant for 45,X/46,XY peripheral blood karyotype but discordant for phenotypic sex.

    Science.gov (United States)

    Tho, Sandra P; Jackson, Robert; Kulharya, Anita S; Reindollar, Richard H; Layman, Lawrence C; McDonough, Paul G

    2007-11-01

    We report on the follow-up of a set of monozygotic (MZ) twins who were concordant for peripheral blood karyotype 45,X/46,XY but discordant for phenotypic sex. One twin is a phenotypically normal male and the other twin has asymetrical gonadal dysgenesis. The female twin has the mos45,X/46,XY karyotype in all four tissues: left testis, right streak, vas deferens, and clitoral skin. The normal male twin has the normal 46,XY karyotype in all three tissues tested: foreskin, scrotal skin, and testis. Follow-up of the twins at age 21, revealed persistence of mos45,X/46,XY karyotype in peripheral blood into adult life. However, the male grew up with normal male stature, reaching an adult height of 182 cm. The female twin received low dose estrogen replacement with complete breast development at age 14 years. She reached an adult height of 156 cm. At 21 years of age the male twin had normal testicular endocrine function, but severe oligospermia. The long-term follow-up of this set of MZ twins indicate that the male twin has the mosaicism confined to peripheral blood and has the normal 46,XY male constitution. This was further confirmed by his normal male stature and normal testicular endocrine function. The 45X cell line is likely due to his receiving these cells passively from his twin sister via placental anastomoses in utero. The exposure to these 45,X cells during development may have had an impact on his spermatogenesis.

  17. Major depressive disorder, suicidal thoughts and behaviours, and cannabis involvement in discordant twins: a retrospective cohort study.

    Science.gov (United States)

    Agrawal, Arpana; Nelson, Elliot C; Bucholz, Kathleen K; Tillman, Rebecca; Grucza, Richard A; Statham, Dixie J; Madden, Pamela Af; Martin, Nicholas G; Heath, Andrew C; Lynskey, Michael T

    2017-09-01

    Early and frequent cannabis use are associated with an increased likelihood of major depressive disorder (MDD) as well as suicidal thoughts and behaviours. We identify associations between aspects of cannabis use, MDD, and suicidal thoughts and behaviours and examine whether such associations persist after accounting for those predisposing factors, including genetic liability and early family environment, that are shared by identical twins who are discordant for cannabis exposure. Any residual association in such identical pairs might be indicative of individual-specific pathways that might be of a causal nature. We did a logistic regression analysis of cannabis use from retrospective data on same-sex male and female twin pairs drawn from 3 studies that had recruited twins from the Australian Twin Registry, 1992-93 (sample 1), 1996-2000 (sample 2), and 2005-09 (sample 3). We studied associations between early use and frequent use of cannabis and MDD, suicidal ideation (ever and persistent), and suicide plan and attempt in the full sample as well as in pairs of monozygotic and dizygotic twins that were discordant for each measure of cannabis involvement at a single timepoint. Significant monozygotic associations were further adjusted for covariates, such as early alcohol or nicotine use, early dysphoric or anhedonic mood, conduct disorder, and childhood sexual abuse. Interactions between each cannabis measure and sex, sample or study effects, and birth year category were also examined as covariates. In 13 986 twins (6181 monozygotic and 7805 dizygotic), cannabis use ranged from 1345 (30·4%) of 4432 people in sample 1 to 2275 (69·0%) of 3299 in sample 3. Mean age of first cannabis use ranged from 17·9 years (SD 3·3) in sample 3 to 21·1 years (5·2) in sample 1, and frequent use (≥100 times) was reported by 214 (15·9%) of 1345 users in sample 1 and 499 (21·9%) of 2275 in sample 3. The prevalence of suicidal ideation ranged from 1102 (24·9%) of 4432 people

  18. Genome-wide analysis of DNA methylation differences in muscle and fat from monozygotic twins discordant for type 2 diabetes.

    Directory of Open Access Journals (Sweden)

    Rasmus Ribel-Madsen

    Full Text Available BACKGROUND: Monozygotic twins discordant for type 2 diabetes constitute an ideal model to study environmental contributions to type 2 diabetic traits. We aimed to examine whether global DNA methylation differences exist in major glucose metabolic tissues from these twins. METHODOLOGY/PRINCIPAL FINDINGS: Skeletal muscle (n = 11 pairs and subcutaneous adipose tissue (n = 5 pairs biopsies were collected from 53-80 year-old monozygotic twin pairs discordant for type 2 diabetes. DNA methylation was measured by microarrays at 26,850 cytosine-guanine dinucleotide (CpG sites in the promoters of 14,279 genes. Bisulfite sequencing was applied to validate array data and to quantify methylation of intergenic repetitive DNA sequences. The overall intra-pair variation in DNA methylation was large in repetitive (LINE1, D4Z4 and NBL2 regions compared to gene promoters (standard deviation of intra-pair differences: 10% points vs. 4% points, P<0.001. Increased variation of LINE1 sequence methylation was associated with more phenotypic dissimilarity measured as body mass index (r = 0.77, P = 0.007 and 2-hour plasma glucose (r = 0.66, P = 0.03 whereas the variation in promoter methylation did not associate with phenotypic differences. Validated methylation changes were identified in the promoters of known type 2 diabetes-related genes, including PPARGC1A in muscle (13.9±6.2% vs. 9.0±4.5%, P = 0.03 and HNF4A in adipose tissue (75.2±3.8% vs. 70.5±3.7%, P<0.001 which had increased methylation in type 2 diabetic individuals. A hypothesis-free genome-wide exploration of differential methylation without correction for multiple testing identified 789 and 1,458 CpG sites in skeletal muscle and adipose tissue, respectively. These methylation changes only reached some percentage points, and few sites passed correction for multiple testing. CONCLUSIONS/SIGNIFICANCE: Our study suggests that likely acquired DNA methylation changes in skeletal muscle or adipose tissue gene

  19. Behavioral versus genetic determination of lipoproteins andidentical twins discordant for exercise

    Energy Technology Data Exchange (ETDEWEB)

    Williams, Paul T.; Blanche, Patricia J.; Krauss, Ronald M.

    2004-06-01

    Lipoprotein and weight differences between vigorously active and sedentary MZ twins are used to: (1) estimate the effects of training while controlling for genotype; (2) estimate genetic concordance in the presence of divergent lifestyles.

  20. Gray and white matter density changes in monozygotic and same-sex dizygotic twins discordant for schizophrenia using voxel-based morphometry

    DEFF Research Database (Denmark)

    Hulshoff Pol, HE; Schnack, HG; Mandl, RC

    2006-01-01

    best reflect the genetic and environmental risk factors in the brains of patients with schizophrenia remains unresolved. 1.5-T MRI brain scans of 11 monozygotic and 11 same-sex dizygotic twin-pairs discordant for schizophrenia were compared to 11 monozygotic and 11 same-sex dizygotic healthy control...... twin-pairs using voxel-based morphometry. Linear regression analysis was done in each voxel for the average and difference in gray and white matter density separately, in each twin-pair, with group (discordant, healthy) and zygosity (monozygotic, dizygotic) as between subject variables, and age, sex...... and handedness as covariates. The t-maps (critical threshold value mid R:tmid R: > 6.0, P

  1. 单绒毛膜双胎胎儿生长受限合并脐带帆状附着一例%Intrauterine growth restriction in monochorionic twin pregnancy complicated with velamentous placen-ta:report of one case

    Institute of Scientific and Technical Information of China (English)

    陈嫦娥

    2016-01-01

    单绒毛膜双胎妊娠合并脐带帆状附着在临床较为少见。该文报道了一例单绒毛膜双胎胎儿生长受限合并脐带帆状附着的病例。该例孕妇停经35周、下腹疼痛5 h,在外院及入院 B 超均显示为双胎妊娠、胎儿生长受限,未报告脐带异常;经积极保胎、营养治疗2周后,B 超检查仍显示胎儿生长受限,胎儿2羊水过少、脐动脉舒张期血流消失,不排除双胎脐带受压及胎盘血流异常,即予急诊剖宫产术,先后娩出2活女婴及胎盘,胎盘为一脐带帆状附着,2条脐带并列一处,呈 V 型附着胎膜。2女婴分别为低体重儿及极低体重儿,其中极低体重儿经无创呼吸机辅助通气无效,于住院第3日因 MODS 死亡,低体重儿及产妇分别于住院10 d、20 d 好转出院。该例提示,产前超声应密切监测双胎的生长发育及羊水量差异,仔细观察脐带插入点、脐动脉血流等指标,为产前咨询和临床决策提供更多依据,以改善单绒毛膜双胎妊娠的围生期结局。%Monochorionic twin pregnancy complicated with velamentous insertion of umbilical cord is rarely reported in clinical practice.In this article,we reported one case of fetal growth restriction in monochori-onic twin pregnancy complicated with velamentous insertion of umbilical cord.The pregnant woman experienced menolipsis for 35 weeks and inferior abdominal pain for 5 h.She was diagnosed with fetal growth restriction in twin pregnancy by repeated B-ultrasound in another hospital and upon admission to our hospital.No abnormality of umbilical cord was reported.After active fetal protection therapy and nutrition enrichment for 2 weeks,B-ul-trasound revealed the signs of fetal growth restriction,oligohydramnios of the second fetus and absent end-dias-tolic flow of umbilical artery.The possibility of umbilical cord compression of the twins and placental flow ab-normality was not excluded.She delivered

  2. Short- and long-term perinatal outcome in twin pregnancies affected by weight discordance

    DEFF Research Database (Denmark)

    Vedel, Cathrine; Oldenburg, Anna; Worda, Katharina

    2017-01-01

    INTRODUCTION: The objective was to investigate the association between chorionicity-specific intertwin birthweight discordance and adverse outcomes including long-term follow up at 6, 18, and 48-60 months after term via Ages and Stages Questionnaire. MATERIAL AND METHODS: In this secondary analys...... birthweight discordance is a risk factor for induced preterm delivery and infant mortality, but not for lower scores for neurophysiological development at 6, 18, and 48-60 months.......-percentile was associated with an increased risk of infant mortality after 28 days [odds ratio 4.69 (95% confidence interval 1.07-20.45)] but not with major neonatal complications or with low mean Ages and Stages Questionnair scores at 6, 18, and 48-60 months after term. CONCLUSION: Chorionicity-specific intertwin......INTRODUCTION: The objective was to investigate the association between chorionicity-specific intertwin birthweight discordance and adverse outcomes including long-term follow up at 6, 18, and 48-60 months after term via Ages and Stages Questionnaire. MATERIAL AND METHODS: In this secondary analysis...

  3. Discordancia de peso al nacer: consecuencias y su perdurabilidad en el desarrollo psicológico del gemelo de menor peso intrapar (Intertwin birth weight discordance: its effects and their persistence in the psychological development of the lightest intrapair twin

    Directory of Open Access Journals (Sweden)

    Elena Escolano-Pérez

    2015-08-01

    Full Text Available More twins are being born with intrapair birth weight discordances. Discordance in birth weight is a risk factor that can affect the development of twins, especially that of the lightest twin. However, few studies have analysed the possible consequences of birth weight discordance on the lightest twin beyond possible neonatal obstetric problems. Thus,little is known about the consequences of birth weight discordance on the psychological development of such babies.This article reviews the literature and summarizes the effects of birth weight discordance on the psychological development of the lightest intrapair twins compared with their heavier twin siblings and the persistence of these effects during their lifetime. The literature shows that the lightest intrapair twins obtain lower scores than their siblings in cognitive, verbal, and psychomotor skills. They are also more likely to have traits associated with the development of hyperactivity. These differences persist from childhood to youth. There is no information about adulthood. In conclusion, birth weight discordance has marked effects on the psychological development of intrapair lower weight twins, both in relation to the affected dimensions and the persistence of these effects over time. Further research is needed on designing early preventative interventions that would optimize the development of these children. This proposal is of relevance, given that the optimal development of all children is the basis of a society in continuous progress.

  4. Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Marina Laplana

    2014-01-01

    Full Text Available Autism spectrum disorder (ASD is a highly heritable disease (~0.9 with a complex genetic etiology. It is initially characterized by altered cognitive ability which commonly includes impaired language and communication skills as well as fundamental deficits in social interaction. Despite the large amount of studies described so far, the high clinical diversity affecting the autism phenotype remains poorly explained. Recent studies suggest that rare genomic variations, in particular copy number variation (CNV, may account for a significant proportion of the genetic basis of ASD. The use of disease-discordant monozygotic twins represents a powerful strategy to identify de novo and inherited CNV in the disorder. Here we present the results of a comparative genome hybridization (CGH analysis with a pair of monozygotic twins affected of ASD with significant differences in their clinical manifestations that specially affect speech language impairment and communication skills. Array CGH was performed in three different tissues: blood, saliva, and hair follicle, in an attempt to identify germinal and somatic CNV regions that may explain these differences. Our results argue against a role of large CNV rearrangements as a molecular etiology of the observed differences. This forwards future research to explore de novo point mutation and epigenomic alterations as potential explanations of the observed clinical differences.

  5. A study of genetic and environmental contributions to structural brain changes over time in twins concordant and discordant for bipolar disorder.

    Science.gov (United States)

    Bootsman, F; Brouwer, R M; Schnack, H G; Kemner, S M; Hillegers, M H J; Sarkisyan, G; van der Schot, A C; Vonk, R; Hulshoff Pol, H E; Nolen, W A; Kahn, R S; van Haren, N E M

    2016-08-01

    This is the first longitudinal twin study examining genetic and environmental contributions to the association between liability to bipolar disorder (BD) and changes over time in global brain volumes, and global and regional measures of cortical surface area, cortical thickness and cortical volume. A total of 50 twins from pairs discordant or concordant for BD (monozygotic: 8 discordant and 3 concordant pairs, and 1 patient and 3 co-twins from incomplete pairs; dizygotic: 6 discordant and 2 concordant pairs, and 1 patient and 7 co-twins from incomplete pairs) underwent magnetic resonance imaging twice. In addition, 57 twins from healthy twin pairs (15 monozygotic and 10 dizygotic pairs, and 4 monozygotic and 3 dizygotic subjects from incomplete pairs) were also scanned twice. Mean follow-up duration for all twins was 7.5 years (standard deviation: 1.5 years). Data were analyzed using structural equation modeling software OpenMx. The liability to BD was not associated with global or regional structural brain changes over time. Although we observed a subtle increase in cerebral white matter in BD patients, this effect disappeared after correction for multiple comparisons. Heritability of brain changes over time was generally low to moderate. Structural brain changes appear to follow similar trajectories in BD patients and healthy controls. Existing brain abnormalities in BD do not appear to progressively change over time, but this requires additional confirmation. Further study with large cohorts is recommended to assess genetic and environmental influences on structural brain abnormalities in BD, while taking into account the influence of lithium on the brain. Copyright © 2016 Elsevier Ltd. All rights reserved.

  6. Health-Related Findings Among Twin Pairs Discordant for Leisure-Time Physical Activity for 32 Years: The TWINACTIVE Study Synopsis.

    Science.gov (United States)

    Leskinen, Tuija; Kujala, Urho M

    2015-06-01

    We are lacking very long-term and controlled intervention studies investigating the effects of habitual physical activity on health-related factors. To address this gap, we performed a natural experiment by identifying same-sex twin pairs in which the co-twins of each pair differed with respect to leisure-time physical-activity habits throughout their adult life. Our criterion for the discordance was that the same co-twin had a higher leisure time-activity volume than that of the other member of the pair at the majority -- if not all -- of the follow-up time points according to reported/interviewed physical-activity data. Overall, we identified and conducted multidimensional health-related measurements (including fitness, body composition, cardiometabolic risk factor levels, bone and arterial status, and exercise motivation) of 16 twin pairs (seven monozygotic (MZ) and nine dizygotic (DZ) pairs, mean age 60 years) who had persistent discordance in leisure-time physical-activity habits over three decades (TWINACTIVE study). In our discordant-pair study design, after adjusting for sequence-level genes, both systemic-level metabolic, and site-specific structural findings differed significantly in the pairwise analysis in MZ pairs only. These findings included intrapair differences in accumulated fat depots and structure of heart, arteries, and bones. In addition, our study revealed intrapair differences in metabolic and regulatory pathways, which may partly explain the mechanistic links between long-term physical activity, phenotypic changes, and decreased risk of cardiometabolic diseases.

  7. Continuous Venovenous Hemodialysis Via Extracorporeal Membrane Oxygenation Pump for Treatment of Hyperammonemia Secondary to Propionic Acidemia in Monochorionic Diamniotic Twin Boys.

    Science.gov (United States)

    Wen, Joy X; Feldenberg, L Richard; Abraham, Elizabeth; Sadiq, Farouk; Christensen, Katherine M; Braddock, Stephen R

    2016-08-01

    Late-preterm twins with propionic acidemia developed severe hyperammonemic encephalopathy at 5 days of age. Continuous venovenous hemodialysis was performed successfully for both infants via extracorporeal membrane oxygenation pump, and both rapidly improved. They were taken off continuous venovenous hemodialysis and extracorporeal membrane oxygenation and discharged with dietary therapy. At 3 years of age, neurodevelopment showed globally delayed milestones.

  8. The impact of laser therapy on fetal growth discordance in twin-to-twin transfusion syndrome O impacto da terapia a laser no crescimento fetal na sindrome de transfusão feto-fetal

    Directory of Open Access Journals (Sweden)

    Renato A. Moreira de Sa

    2005-09-01

    Full Text Available OBJECTIVES: to evaluate the impact of laser therapy on inter-twin discordance in twin-to-twin transfusion syndrome (TTTS. METHODS: biparietal diameter (BPD, head circumference (HC, abdominal circumference (AC, femur length (FL and estimated fetal weight were prospectively collected during a five-year period (1999 to 2004. The inter-twin discordance was expressed as a percentage of the largest twin's measurements. The measurements were made the day before laser, twice following laser and after delivery. The mean values of discordance in measurements and in fetal weight were calculated. ANOVA was used to compare mean values. RESULTS: the mean (SD discordance for BPD, HC, AC, FL and estimated fetal weight the day before laser were 8.53% (5.28, 8.75% (2.76, 16.19% (4.85, 12.92% (5.13 and 28.50% (6.46 respectively. At the at 2nd ultrasound assessment after surgery were 4.37% (3.55, 3.73% (2.71, 8.90% (4.42, 6.61% (4.99 and 19.11% (8.01 respectively; and at birth the weight discordance was 18.55% (8.74. There was a significant decrease in discordance for HC and AC for each ultrasound assessment. CONCLUSIONS: there was a decrease in fetal growth discordance following laser therapy in TTTS. These changes might be related to re-adaptation of blood flow following laser therapy.OBJETIVOS: avaliar impacto da terapia a laser no crescimento fetal na Sindrome de transfusão feto-fetal (STFF. MÉTODOS: diâmetro biparietal (DBP, circunferência cefálica (CC e abdominal (CA, comprimento do fêmur (CF e peso fetal foram colhidos prospectivamente no período de cinco anos (1999 a 2004. A discordância entre os gêmeos foi expressa como porcentagem da medida do maior. As medidas foram feitas um dia antes do laser, duas vezes após e depois do nascimento. A cada exame e pós-parto foram calculadas médias das discordâncias entre medidas e peso fetal. ANOVA foi usada para comparar as médias. RESULTADOS: a discordância média (SD para DBP, CC, CA, CF e peso fetal

  9. Increased prevalence of congenital heart defects in monozygotic and dizygotic twins

    DEFF Research Database (Denmark)

    Herskind, Anne Maria; Almind Pedersen, Dorthe; Christensen, Kaare

    2013-01-01

    Smaller studies and many case series reports indicate that congenital heart defects may be more common in monochorionic twins than in dichorionic twins and singletons.......Smaller studies and many case series reports indicate that congenital heart defects may be more common in monochorionic twins than in dichorionic twins and singletons....

  10. Common immune-related exposures/conditions and risk of non-Hodgkin lymphoma: a case-control study of disease-discordant twin pairs.

    Science.gov (United States)

    Wang, Jun; Mack, Thomas M; Hamilton, Ann S; Hwang, Amie E; Nathwani, Bharat N; Masood, Kamil; Buchanan, Laura H; Bernstein, Leslie; Deapen, Dennis M; Martínez-Maza, Otoniel; Cozen, Wendy

    2015-09-01

    We evaluated the association between common immune system-altering experiences and non-Hodgkin lymphoma (NHL) risk using a case-control study of 162 like-sex twin pairs discordant for NHL, identified from the International Twin Study. Information on medical history and evidence of childhood exposure to microbes was obtained by questionnaire from 1998 to 2002. Conditional logistic regression was used to estimate odds ratios and 95% confidence intervals. Intra-twin-pair agreement between twins on individual exposures was high (76%-97%). A negative association between NHL and seasonal hay fever (odds ratio (OR) = 0.28, 95% confidence interval (CI): 0.10, 0.75) and certain allergies (OR = 0.29, 95% CI: 0.13, 0.68) was observed. The number of atopic diseases was negatively associated with NHL (P for trend = 0.0003). A history of infectious mononucleosis was negatively associated with NHL risk (OR = 0.35, 95% CI: 0.14, 0.90). NHL risk was associated with more frequent childhood exposure to microbes during early life (P for trend = 0.04). No differences in association by NHL subtype were observed, although statistical power for these comparisons was low. These observations support the hypothesis that immune-related exposures, especially atopy, are associated with decreased NHL risk. Use of the within-twin-pair study design mitigates confounding by genome, family structure, and unmeasured characteristics of early childhood factors.

  11. Discordant Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in identical twins - a case report and implications for reproduction in MRKH women.

    Science.gov (United States)

    Milsom, Stella Ruth; Ogilvie, Cara Megan; Jefferies, Craig; Cree, Lynsey

    2015-01-01

    Infertility has previously been considered as an inevitable consequence of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. With modern assisted reproductive technology (ART) techniques becoming increasingly accessible, MRKH women have the opportunity for their own genetic offspring. The availability of such technology, however, increases the importance of understanding the aetiology of this complex condition. The literature debating the relevance of genetic versus post-zygotic events in the aetiology of MRKH syndrome is reviewed in the context of this report of monozygotic twins discordant for MRKH syndrome.

  12. Twin anemia polycythemia sequence

    NARCIS (Netherlands)

    Slaghekke, Femke

    2014-01-01

    In this thesis we describe that Twin Anemia Polycythemia Sequence (TAPS) is a form of chronic feto-fetal transfusion in monochorionic (identical) twins based on a small amount of blood transfusion through very small anastomoses. For the antenatal diagnosis of TAPS, Middle Cerebral Artery – Peak Syst

  13. Twin anemia polycythemia sequence

    NARCIS (Netherlands)

    Slaghekke, Femke

    2014-01-01

    In this thesis we describe that Twin Anemia Polycythemia Sequence (TAPS) is a form of chronic feto-fetal transfusion in monochorionic (identical) twins based on a small amount of blood transfusion through very small anastomoses. For the antenatal diagnosis of TAPS, Middle Cerebral Artery – Peak

  14. Effects of type II collagen epitope carbamylation and citrullination in human leucocyte antigen (HLA)-DR4(+) monozygotic twins discordant for rheumatoid arthritis.

    Science.gov (United States)

    De Santis, M; Ceribelli, A; Cavaciocchi, F; Generali, E; Massarotti, M; Isailovic, N; Crotti, C; Scherer, H U; Montecucco, C; Selmi, C

    2016-09-01

    The aim of this study is to investigate the effect of the native, citrullinated or carbamylated type II human collagen T cell- and B cell-epitopes on the adaptive immune response in rheumatoid arthritis (RA). Peripheral blood T and B cells obtained from a human leucocyte D4-related (antigen DR4(-) HLA-DR4)(+) woman with early RA, her healthy monozygotic twin and an unrelated HLA-DR3(+) woman with early RA were analysed for activation (CD154/CD69), apoptosis (annexin/7-aminoactinomycin), cytokine production [interferon (IFN)γ/interleukin (IL)-17/IL-4/IL-10/IL-6] and functional phenotype (CD45Ra/CCR7) after stimulation with the collagen native T cell epitope (T261-273), the K264 carbamylated T cell epitope (carT261-273), the native B cell epitope (B359-369) or the R360 citrullinated B cell epitope (citB359-369), and the combinations of these. The T cell memory compartment was activated by T cell epitopes in both discordant DR4(+) twins, but not in the DR3(+) RA. The collagen-specific activation of CD4(+) T cells was induced with both the native and carbamylated T cell epitopes only in the RA twin. Both T cell epitopes also induced IL-17 production in the RA twin, but a greater IL-4 and IL-10 response in the healthy twin. The citrullinated B cell epitope, particularly when combined with the carbamylated T cell epitope, induced B cell activation and an increased IL-6/IL-10 ratio in the RA twin compared to a greater IL-10 production in the healthy twin. Our data suggest that circulating collagen-specific T and B cells are found in HLA-DR4(+) subjects, but only RA activated cells express co-stimulatory molecules and produce proinflammatory cytokines. Carbamylation and citrullination further modulate the activation and cytokine polarization of T and B cells.

  15. Twin-twin transfusion syndrome - diagnosis and prognosis

    Directory of Open Access Journals (Sweden)

    Hajrić-Egić Amira

    2003-01-01

    Full Text Available Twin-twin transfusion syndrome is a serious complication of monozygotic, monochorionic, diamniotic twins resulting from transplacental vascular communications. In this syndrome blood is thought to be shunted from one twin - donor,who develops anaemia,growth retardation and oligoamnios, to the other twin - recipient,who becomes plethoric,macrosomic and develops polyhydroamnios. The incidence of twin-twin transfusion syndrome ranges from 5-15% of all twin pregnancies. If this condition develops in the second trimester, it is usually associated with spontaneous abortion and death of one or both fetuses before viability. Developing the syndrome in the third trimester has better perinatal outcome. Mortality rates ranging from 56%-100%, depending on gestational age and severity of the syndrome. The ultrasound criterias for diagnosis, in this study,were the presence of twins of the same sex with discordant growth, with oligohydroamnios in one twin sac and polyhydroamnios in the other one, one placenta and thin membrane between twins. The present study shows clinical course of 14 cases and value of Doppler ultrasound to analyze the usefulness of umbilical artery blood flow velocimetry for predicting the risk of twin-twin transfusion syndrome. 14 twin pregnancies with twin-twin transfusion syndrome were diagnosed during the last four years period and prospectivelly followed. 9 cases were diagnosed before the completion od 28 weeks of gestation.The mean gestational age was 21,6_+4,2 weeks at diagnosis and 23,2+_3,6 weeks at delivery. 5 cases were diagnosed after 28 weeks of gestation. The mean gestational age in this group was 29,6+_2,1 weeks at diagnosis and 33+_3,3 weeks at delivery. The survival rate in this study was 29%(8/28.9 cases ended in spontaneous abortion between 18th and 27th weeks of pregnancy (table 1 and 5 in premature labor (table 2.There were 7 intrauterine death (5 at admission and 2 few days after admission and 13 neonatal deaths

  16. 双胎胎儿生长不一致妊娠结局的探讨分析%Clinical observation on perinatal outcome in discordant twin pregnancies

    Institute of Scientific and Technical Information of China (English)

    王佳蓉

    2014-01-01

    ObjectiveTo analyze the perinatal outcomes of growth discordant in twins pregnancy. MethodsA retrospective analysis of clinical data was conducted in 24 cases of twin babies who were admitted in our hospital from January 2011 to January 2014, and the 24 cases were divided groups:observation group(14 cases) and control group(10 cases). Twin pairs whose birth weight difference was 20% or more were designated as discordant twins. To compare the difference between of the pairs.ResultsThe perinatal mortality in observation group was significantly higher than that in control group(P0.05). Neonatal occupancy rate in NICU and complication rate were obviously higher in observation group than that in the control group, and there was significant difference(P20%为诊断标准,分为观察组14例和对照组10例(发育一致性),比较两组间孕妇的一般情况。结果观察组并发围生儿死亡率明显高于对照组(P0.05);观察组新生儿入住NICU比率明显高于对照组,两组比较差异有统计学意义(P<0.05)。观察组并发症发生率高于对照组(P<0.05)。结论发育不一致性双胎妊娠并发症及围生儿患病率和死亡率明显高于发育一致性双胎,及早发现和处理双胎发育不一致,是改善胎儿和新生儿预后的关键。

  17. Detection of chromosomal abnormalities, congenital abnormalities and transfusion syndrome in twins

    DEFF Research Database (Denmark)

    Sperling, Lene; Kiil, C; Larsen, L U;

    2007-01-01

    by assisted reproduction. The incidence of TTTS was 23% from 12 weeks until delivery, and all those monochorionic twin pregnancies that miscarried had signs of TTTS. CONCLUSION: Twin pregnancies have an increased risk of congenital malformations and one out of four monochorionic pregnancies develops TTTS...

  18. Clinical and placental characteristics in four new cases of twin anemia-polycythemia sequence.

    Science.gov (United States)

    Weingertner, A S; Kohler, A; Kohler, M; Bouffet, N; Hunsinger, M C; Mager, C; Hornecker, F; Neumann, M; Schmerber, E; Tanghe, M; Viville, B; Favre, R

    2010-04-01

    We report and analyze four new cases of spontaneous twin anemia-polycythemia sequence (TAPS) and discuss antenatal management by fetoscopic laser coagulation for this uncommon form of chronic intertwin transfusion. The clinical course and placental characteristics of four pairs of monochorionic-diamniotic (MCDA) twins with spontaneous TAPS, of which one was treated with fetoscopic laser surgery, are described. For the three cases that did not undergo intrauterine intervention, serial Doppler measurement revealed a gradual increase in the middle cerebral artery peak systolic velocity (MCA-PSV) in the donor and a concomitant decrease in the recipient. These twins were born at between 32 and 34 weeks' gestation by Cesarean section. At birth, the donor twins were severely anemic and the recipient twins were polycythemic. Placental injection studies revealed a few small arteriovenous (AV) and venoarterial anastomoses. In the fourth case, because of the high suspicion of TAPS on MCA-PSV data at 24 weeks' gestation, fetoscopic laser coagulation of three small AV anastomoses was successfully performed. No hematological abnormalities were detected at birth. TAPS is a newly described form of chronic twin-to-twin transfusion associated with chronic anemia in the donor and polycythemia in the recipient, without twin oligo-polyhydramnios sequence (TOPS). The monitoring of MCDA pregnancies should include measurement of MCA-PSV in both fetuses even in the absence of intertwin discordance in amniotic fluid volume. Early detection of TAPS could indicate fetoscopic laser coagulation of AV anastomoses. Copyright 2009 ISUOG. Published by John Wiley & Sons, Ltd.

  19. Gestación gemelar monocorial: Ecografía, Doppler y estudio de los vasos placentarios post parto y su correlación con la ocurrencia de complicaciones Monochorionic twin gestations: Ultrasonography, Doppler and study of the placental vassels post parturition and his correlation with the occurrence of complications

    Directory of Open Access Journals (Sweden)

    Mariángeles Gómez

    2009-06-01

    las GDM. Las anomalías de inserción del CU son frecuentes en GDM. En la GDM el RCIUs se relaciona con distribución desigual del territorio placentario. La presencia de FA/Ri en la AU de un feto sugiere la presencia de AAA, las que impedirían un STFF.Objective: To correlate between the appearence of Intrauterine Fetal Growth Restriction (IFGR, Selective Intrauterine Fetal Growth Restriction (SIFGR, Twin-to-Twin Transfusion Syndrome (TTTS and macroscopic findings of placentas in Monochorionic Twin Gestations. To determine the importance of ultrasound and Doppler findings. Materials and methods: Between January 2005 and January 2008 we diagnosed 8 monochorionic twin pregnancies. Chorionicity was determined with first trimester ultrasound screening. Follow-up scans were done to assess amniotic fluid volume, bladders, fetal weight and fetal Doppler ultrasound. Alter delivery, we cannulated and dyed umbilical arteries and veins in order to characterise vascular anastomoses. We also evaluated distribution of the placenta plate, and type of cord insertion (central, marginal or velamentous. Results: Follow-up scans revealed: 3 cases with selective intrauterine fetal growth restriction (SIFGR; 1 case with intrauterine fetal growth restriction (IFGR; 1 case with twin-to-twin transfusion syndrome (TTTS; and 3 normal pregnancies. Follow-up Doppler scans revealed: 4 cases with intermittent absent/reversed end-diastolic umbilical artery flow; 3 cases with signs of placental insufficiency; and 2 normal cases. Perinatal outcome: 1 case of twin-to-twin transfusion syndrome (TTTS; 2 cases of selective intrauterine fetal growth restriction (SIFGR; 1 case of intrauterine fetal growth restriction (IFGR; 4 healthy cases. Visual inspection of placental plate: equal placental sharing (6 cases; unequal placental sharing (2 cases. Types of cord insertion: both fetuses with marginal cord insertion (3 cases; both fetuses with central insertion (2 cases; one fetus with central and the other

  20. A Pair of Identical Twins Discordant for Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Differ in Physiological Parameters and Gut Microbiome Composition

    Science.gov (United States)

    Giloteaux, Ludovic; Hanson, Maureen R.; Keller, Betsy A.

    2016-01-01

    Patient: Male, 34 Final Diagnosis: ME/CFS Symptoms: Exertion intolerance • loss of functional capacity • pain • severe fatigue Medication: — Clinical Procedure: Cardiopulmonary exercise test Specialty: Sports Medicine Objective: Unknown ethiology Background: Patients with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) present with profound fatigue, flu-like symptoms, pain, cognitive impairment, orthostatic intolerance, post-exertional malaise (PEM), and exacerbation of some or all of the baseline symptoms. Case Report: We report on a pair of 34-year-old monozygotic twins discordant for ME/CFS, with WELL, the non-affected twin, and ILL, the affected twin. Both twins performed a two-day cardiopulmonary exercise test (CPET), preand post-exercise blood samples were drawn, and both provided stool samples for biochemical and molecular analyses. At peak exertion for both CPETs, ILL presented lower VO2peak and peak workload compared to WELL. WELL demonstrated normal reproducibility of VO2@ventilatory/anaerobic threshold (VAT) during CPET2, whereas ILL experienced an abnormal reduction of 13% in VAT during CPET2. A normal rise in lactate dehydrogenase (LDH), creatine kinase (CK), adrenocorticotropic hormone (ACTH), cortisol, creatinine, and ferritin content was observed following exercise for both WELL and ILL at each CPET. ILL showed higher increases of resistin, soluble CD40 ligand (sCD40L), and soluble Fas ligand (sFasL) after exercise compared to WELL. The gut bacterial microbiome and virome were examined and revealed a lower microbial diversity in ILL compared to WELL, with fewer beneficial bacteria such as Faecalibacterium and Bifidobacterium, and an expansion of bacteriophages belonging to the tailed dsDNA Caudovirales order. Conclusions: Results suggest dysfunctional immune activation in ILL following exercise and that prokaryotic viruses may contribute to mucosal inflammation and bacterial dysbiosis. Therefore, a two-day CPET and molecular

  1. Differential methylation of the X-chromosome is a possible source of discordance for bipolar disorder female monozygotic twins

    NARCIS (Netherlands)

    Rosa, Araceli; Picchioni, Marco M.; Kalidindi, Sridevi; Loat, Caroline S.; Knight, Joanne; Toulopoulou, Timothea; Vonk, Ronald; van der Schot, Astrid C.; Nolen, Willem; Kahn, Rene S.; McGuffin, Peter; Murray, Robin M.; Craig, Ian W.

    2008-01-01

    Monozygotic (MZ) twins may be subject to epigenetic modifications that could result in different patterns of gene expression. Several lines of evidence suggest that epigenetic factors may underlie mental disorders such as bipolar disorder (BD) and schizophrenia (SZ). One important epigenetic

  2. Differential methylation of the X-chromosome is a possible source of discordance for bipolar disorder female monozygotic twins

    NARCIS (Netherlands)

    Rosa, Araceli; Picchioni, Marco M.; Kalidindi, Sridevi; Loat, Caroline S.; Knight, Joanne; Toulopoulou, Timothea; Vonk, Ronald; van der Schot, Astrid C.; Nolen, Willem; Kahn, Rene S.; McGuffin, Peter; Murray, Robin M.; Craig, Ian W.

    2008-01-01

    Monozygotic (MZ) twins may be subject to epigenetic modifications that could result in different patterns of gene expression. Several lines of evidence suggest that epigenetic factors may underlie mental disorders such as bipolar disorder (BD) and schizophrenia (SZ). One important epigenetic modific

  3. Rapid onset of severe twin-twin transfusion syndrome caused by placental venous thrombosis

    NARCIS (Netherlands)

    Nikkels, PGJ; van Gemert, MJC; Sollie-Szarynska, KM; Molendijk, H; Timmer, B; Machin, GA

    2002-01-01

    We report a case of rapid onset of severe twin-twin transfusion syndrome (TTTS) at 25 weeks gestation in a monochorionic twin pregnancy that was uneventful before that time. Thrombosis of a main venous branch draining several arteriovenous (AV) anastomoses to the donor changed the previous hemodynam

  4. Prospective risk of stillbirth and neonatal complications in twin pregnancies

    DEFF Research Database (Denmark)

    Cheong-See, Fiona; Schuit, Ewoud; Arroyo-Manzano, David

    2016-01-01

    OBJECTIVE: To determine the risks of stillbirth and neonatal complications by gestational age in uncomplicated monochorionic and dichorionic twin pregnancies. DESIGN: Systematic review and meta-analysis. DATA SOURCES: Medline, Embase, and Cochrane databases (until December 2015). REVIEW METHODS: ...

  5. X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate

    DEFF Research Database (Denmark)

    Kimani, Jane W; Shi, Min; Daack-Hirsch, Sandra

    2007-01-01

    Nonsyndromic clefts of the lip and/or palate are common birth defects with a strong genetic component. Based on unequal gender ratios for clefting phenotypes, evidence for linkage to the X chromosome and the occurrence of several X-linked clefting syndromes, we investigated the role of skewed X...... of XCI was defined as the deviation in inactivation pattern from a 50:50 ratio. Our analysis revealed no significant difference in the degree of skewing between twin pairs (P = 0.3). However, borderline significant differences were observed in the sister pairs (P = 0.02), with the cleft lip with cleft......, particularly cleft lip and palate....

  6. The Accuracy of Estimating Fetal Weight and Inter-Twin Weight Discordance by Ultrasound in Twin Pregnancies in Women With Increased Body Mass Index.

    Science.gov (United States)

    Al-Obaidly, Sawsan; Parrish, Jacqueline; Murphy, Kellie E; Glanc, Phyllis; Maxwell, Cynthia

    2015-08-01

    Objectifs : Cette étude avait pour objectif de déterminer si la présence d’un IMC maternel prégrossesse accru entraînait une baisse de la précision de l’échographie pour ce qui est de l’estimation du poids fœtal et de la discordance intergémellaire en matière de poids dans le cadre de grossesses gémellaires, par comparaison avec des femmes présentant un IMC normal. Méthodes : Nous avons mené une étude de cohorte rétrospective portant sur des femmes qui présentaient un IMC prégrossesse (ou aux débuts de la grossesse) connu, qui ont accouché après 28 semaines de gestation à la suite d’une grossesse gémellaire viable entre 2008 et 2011, et qui ont subi un examen échographique visant l’estimation du poids fœtal dans les deux semaines ayant précédé l’accouchement. Le poids fœtal estimé (PFE) par échographie a été comparé au poids réel de chacun des jumeaux, puis la discordance intergémellaire en matière de poids (définie comme une différence de poids entre les jumeaux de plus de 25 %) a été stratifiée en fonction de l’IMC de la patiente. Nous avons cherché à déterminer si le PFE et la discordance intergémellaire en matière de poids avaient été affectés lorsque l’accouchement était survenu de 8 à 14 jours à la suite de l’échographie, par comparaison avec un accouchement étant survenu dans les sept jours de la tenue de l’échographie. Résultats : Nous avons pu identifier, au total, 300 grossesses gémellaires pour lesquelles l’IMC maternel prégrossesse était connu : 179 femmes présentaient une insuffisance pondérale ou un poids normal (IMC grossesse gémellaire, l’estimation du poids fœtal par échographie semble être plus fiable lorsqu’elle est menée peu avant l’accouchement.

  7. Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes

    Directory of Open Access Journals (Sweden)

    Lee Norman H

    2006-05-01

    Full Text Available Abstract Background The autism spectrum encompasses a set of complex multigenic developmental disorders that severely impact the development of language, non-verbal communication, and social skills, and are associated with odd, stereotyped, repetitive behavior and restricted interests. To date, diagnosis of these neurologically based disorders relies predominantly upon behavioral observations often prompted by delayed speech or aberrant behavior, and there are no known genes that can serve as definitive biomarkers for the disorders. Results Here we demonstrate, for the first time, that lymphoblastoid cell lines from monozygotic twins discordant with respect to severity of autism and/or language impairment exhibit differential gene expression patterns on DNA microarrays. Furthermore, we show that genes important to the development, structure, and/or function of the nervous system are among the most differentially expressed genes, and that many of these genes map closely in silico to chromosomal regions containing previously reported autism candidate genes or quantitative trait loci. Conclusion Our results provide evidence that novel candidate genes for autism may be differentially expressed in lymphoid cell lines from individuals with autism spectrum disorders. This finding further suggests the possibility of developing a molecular screen for autism based on expressed biomarkers in peripheral blood lymphocytes, an easily accessible tissue. In addition, gene networks are identified that may play a role in the pathophysiology of autism.

  8. Feto-fetal transfusion syndrome in monochorionic quadruplets.

    Science.gov (United States)

    O'Brien, Barbara M; Feltovich, Helen M; Carr, Stephen R; Luks, Francois I

    2010-02-01

    Endoscopic laser ablation of placental vessels is now the preferred treatment for severe feto-fetal transfusion syndrome in twin gestations, and has been well-documented in triplet gestations as well. Stage IV feto-fetal transfusion syndrome was diagnosed at 20.3 weeks of gestation between two of a set of monochorionic, tetramniotic quadruplets. Endoscopic laser ablation occurred at 20.4 weeks. Feto-fetal transfusion recurred at 22 weeks between the initial donor and the two previously unaffected fetuses. Delivery occurred at 24.9 weeks. The donor and one of the corecipients died shortly after birth. The sole survivor was doing well. Treatment of feto-fetal transfusion syndrome in higher-order gestations is challenging because of the increased pregnancy risks, the difficult angioarchitecture and the risk of recurrence.

  9. Gêmeas idênticas discordantes para a doença de Cushing: relato de caso Identical twins discordant for Cushing's disease: case report

    Directory of Open Access Journals (Sweden)

    MARCELO MAIA PINHEIRO

    1999-09-01

    Full Text Available A doença de Cushing é rara em crianças e sua ocorrência em gêmeos é ainda mais rara. O presente estudo relata a ocorrência de gêmeas idênticas discordantes quanto à doença de Cushing. Uma das gêmeas, desenvolveu síndrome de Cushing aos 10 anos de idade. Sua investigação demonstrou cortisol urinário elevado, ACTH sérico elevado e testes de supressão com dexametasona compatíveis com doença de Cushing. A RMN mostrou macroadenoma hipofisário que foi operado por via transesfenoidal. O estudo imuno-histoquímico confirmou a presença de células produtoras de ACTH. A paciente entrou em remissão clínica e laboratorial desde a cirurgia. Após o desaparecimento dos estigmas do Cushing, a paciente reiniciou ganho estatural, mas permanece menor que sua irmã gêmea. Esta última permanece saudável 4 anos após o início da doença de sua irmã. Este é o terceiro caso do gênero relatado na literatura. Estes achados sugerem que fatores não genéticos estão envolvidos na gênese da doença de Cushing.Cushing's disease is rare in children and its ocurrence in identical twins is extremely rare. This paper reports on identical twins discordant for Cushing's disease. One of them first presented with a cushingoid phenotype by the age of 10. Her evaluation showed an increased urinary free-cortisol and serum ACTH. Her pattern in the dexametazone supression tests was compatible with Cushing's disease. MRI disclosed a pituitary macroadenoma which was removed by the transesphenoidal approach. Immunohistochemical studies of the tumor showed the presence of ACTH-producing cells. The patient went into clinical and laboratorial remission after surgery. She re-started to grow after the disappearance of the Cushing's phenotype but she is still shorter than her healthy sister. The latter remains disease-free 4 years after her sister's diagnosis. This represents the third such case reported in the literature. Our findings suggest that acquired

  10. Monochorionic triamniotic triplets following conventional in vitro fertilization and blastocyst transfer

    Directory of Open Access Journals (Sweden)

    Sumana Gurunath

    2015-01-01

    Full Text Available Multiple pregnancy in in vitro fertilization (IVF is on the decline with a reduction in number of embryos transferred. But the risk of monozygotic splitting persists. The risk of monozygotic twinning in women undergoing IVF is reported to be twice that of natural conception, and monochorionic triplets are even rarer at 100 times more than natural conception. We report a case of monochorionic triamniotic (MCTA triplets following conventional IVF and blastocyst transfer without zona manipulation. This report highlights the possibility of zygotic splitting in IVF in young couples with no family history, in centers with good experience with blastocyst transfer. MCTA triplets carry a high risk of perinatal mortality and morbidity and need multidisciplinary care. Prevention and prediction of zygotic splitting ought to be realized with better reporting and identification of possible risk factors.

  11. Monochorionic monoamniotic twin pregnancy:a review of 2 cases%单绒毛膜单羊膜囊双胎妊娠2例临床分析

    Institute of Scientific and Technical Information of China (English)

    马腾; 丁新

    2016-01-01

    ObjectiveTo review the diagnosis, monitoring, management and perinatal outcomes of monochoriotic monoaminiotic twin pregnancy.MethodSummary clinical experience by discuss the 2 cases and review relevant literature.ResultTwo cases were terminated pregnancy by cesarean section in the late pregnancy, two fetuses in the same amniotic cavity were found intraoperatively.ConclusionEarly ultrosonography is important to diagnosis the MCMA twin pregnancy, there is controvercy in monitoring and delivery time of MCMA twin pregnancy, it is better to terminate pregnancy by cesarean section.%目的:探讨单绒毛膜单羊膜囊(monochoroinic monoaminiotic,MCMA)双胎妊娠的诊断、妊娠期监护、分娩方式以及妊娠结局的相关问题。方法通过对本院收治的2例MCMA双胎妊娠病例进行讨论,并复习相关文献,总结临床经验。结果2例患者均于孕晚期以剖宫产术结束妊娠,术中见两胎儿位于同一羊膜腔内。结论孕早期超声诊断对MCMA的确诊极为重要,但对MCMA双胎妊娠的孕期监测以及分娩时机尚有争议,分娩方式则以剖宫产术终止妊娠为宜。

  12. The Vanishing Twin Syndrome: Two Cases of Extreme Malformations Associated With Vanished Twins.

    Science.gov (United States)

    Shinnick, Julia K; Khoshnam, Nasim; Archer, Sydney R; Quigley, Philip C; Robinson, Haynes; Keene, Sarah; Santore, Matthew T; Hill, Sarah; Patel, Binita; Shehata, Bahig M

    2017-01-01

    Two cases of devastating fetal malformations associated with vanished monochorionic twins were identified upon review of pathology files. A 35-year-old G1P0 woman and 36-year-old G3P1 woman were both diagnosed with an intrauterine twin gestation via transvaginal ultrasound at 10 weeks. The spectrum of fetal anomalies ranged from omphalocele, bilateral upper extremity, and unilateral lower extremity hypoplasia, to craniofacial malformation with diaphragmatic hernia. On histopathologic examination, the placentas demonstrated vascular anastomoses between the surviving co-twin and the "vanished" fetal sac. We propose anastomotic placental vasculature as a contributing factor to the observed fetal malformations. Additionally, genetic or teratogenic factors may have been attributed to the demise of the first twin and the anomalies seen in the other twin. While such instances are rare, they are important to consider when counseling patients regarding outcomes associated with a monochorionic vanished twin.

  13. TWIN PREGNANCY WITH ACARDIUS ANCEPS

    Directory of Open Access Journals (Sweden)

    Padma

    2014-02-01

    Full Text Available Acardiac twin is an anomaly unique to monochorionic multiple pregnancies, characterized by formation of malformed fetus with an absent or rudimentary (nonfunctional heart. Acardiac twinning, often results from abnormal placental vascular anastomoses. A 20 year old primigravida admitted to the department of Obstetrics and Gynecology S .S. Medical College, Rewa, on 26th July 2012 at the gestation of 34 week with spontaneous monochorionic monoamniotic twin pregnancy and fetal acardius with oligohydramnios. Patient was taking her treatment from private Hospital; acardius was diagnosed at 27 week due to late booking. In view of oligohydramnios and hypoxic changes in color Doppler, elective LSCS was done on 28/7/13 at 34 week 2 day, after betnesol coverage. She delivered a live, healthy, female child with good APGAR score having apparently no congenital anomaly, with a birth weight of 2.3 kg .The other twin was fetus acardius, of about900 gm. with head and face partially developed . Upper limb was rudimentary and lower limb was partially developed and malformed. External genitalia were developed as female. Placenta was monochorionic and monoamniotic, weighing500 gm. The umbilical cord of the normal twin was20 cm with central attachment, while the other umbilical cord was10 cm long with peripheral attachment

  14. Myocardial hypertrophy in the recipient with twin-to-twin transfusion syndrome

    DEFF Research Database (Denmark)

    Jeppesen, D.L.; Jorgensen, F.S.; Pryds, O.A.

    2008-01-01

    In a set of monochorionic-diamniotic twins with twin-to-twin transfusion syndrome, systemic hypertension and biventricular myocardial hypertrophy were found in the recipient. The infant developed mild respiratory distress. A partial exchange transfusion was performed because of polycytaemia. Blood...... pressure measurements revealed persistent systemic hypertension. Biventricular hypertrophy was demonstrated by echocardiography. Blood pressure normalised after treatment with Nifedipine and the cardiac hypertrophy subsided over the following weeks. A potential contributing mechanism is intrauterine...

  15. Myocardial hypertrophy in the recipient with twin-to-twin transfusion syndrome

    DEFF Research Database (Denmark)

    Jeppesen, D.L.; Jorgensen, F.S.; Pryds, O.A.

    2008-01-01

    pressure measurements revealed persistent systemic hypertension. Biventricular hypertrophy was demonstrated by echocardiography. Blood pressure normalised after treatment with Nifedipine and the cardiac hypertrophy subsided over the following weeks. A potential contributing mechanism is intrauterine......In a set of monochorionic-diamniotic twins with twin-to-twin transfusion syndrome, systemic hypertension and biventricular myocardial hypertrophy were found in the recipient. The infant developed mild respiratory distress. A partial exchange transfusion was performed because of polycytaemia. Blood...

  16. Hypoalbuminemia in Donors with Twin Anemia-Polycythemia Sequence : A Matched Case-Control Study

    NARCIS (Netherlands)

    Verbeek, L.; Slaghekke, F.; Hulzebos, C. V.; Oepkes, D.; Walther, F. J.; Lopriore, E.

    2013-01-01

    Objective: To determine the differences in albumin levels between donors and recipients with twin anemia-polycythemia sequence (TAPS). Methods: We included all consecutive monochorionic twins with TAPS with double survivors. Each twin pair was matched for gestational age at birth with 2 control nnon

  17. Acardiac Twin Presented as a Lower Extremity:Case Report with Serial Prenatal Ultrasonography

    Energy Technology Data Exchange (ETDEWEB)

    Yi, Boem Ha; Park, Seong Jin; Lee, Hae Kyung; Hong, Hyeon Sook; Lee, Kwon Hae; Kim, Tae Hee [Soonchunhyang University Bucheon Hospital, Bucheon (Korea, Republic of)

    2010-03-15

    An acardiac twin is one of the very rare anomalies that occurs in monochorionic twins and the incidence of this is about one out of 35,000 births. We present the serial prenatal ultrasound findings, along with the postnatal histologic correlation, of an acardiac twin that manifested as a single lower extremity

  18. Hypoalbuminemia in Donors with Twin Anemia-Polycythemia Sequence : A Matched Case-Control Study

    NARCIS (Netherlands)

    Verbeek, L.; Slaghekke, F.; Hulzebos, C. V.; Oepkes, D.; Walther, F. J.; Lopriore, E.

    2013-01-01

    Objective: To determine the differences in albumin levels between donors and recipients with twin anemia-polycythemia sequence (TAPS). Methods: We included all consecutive monochorionic twins with TAPS with double survivors. Each twin pair was matched for gestational age at birth with 2 control

  19. Clinical Analysis and Literature Review in 26 Cases of Discordant Growth Twin%双胎妊娠生长不一致26例临床分析及文献复习

    Institute of Scientific and Technical Information of China (English)

    杨正勤

    2014-01-01

    目的:分析双胎妊娠生长不一致的孕产妇及围产儿情况。方法:收集我院产科2009年8月-2013年8月住院分娩的26例双胎妊娠生长不一致孕产妇的临床资料,并随机选取26例同期住院分娩的双胎妊娠生长一致孕产妇作为对照组,分析比较两组间孕产妇孕期情况及围产儿结局。结果:研究组孕产妇一般情况与对照组无明显差异(P>0.05);研究组孕产妇合并妊娠期高血压疾病、双胎输血综合征、一胎胎死宫内、胎儿畸形的发生率高于对照组。研究组小于孕龄儿、新生儿窒息、转NICU、围产儿死亡的发生率明显高于对照组,差异有统计学意义(P<0.05)。结论:双胎妊娠生长不一致的母体并发症及围产儿预后较差。早发现、早诊断、及时干预及治疗对改善胎儿及新生儿预后具有重要意义。%Objective :To analyze the maternal and perinatal outcomes of discordant growth twin .Methods:The clinical data of 26 pregnant and lying-in women with discordant growth twin hospitalized in our hospital from August 2009 to August 2013 were collected ,and randomly selected 26 pregnant women with consistent grow th twin in our hospital from the same period of time were chosen as control group .Maternal prenatal and perinatal outcomes were compared between these two groups .Results:There was no significant difference in the two groups in the general situation of pregnant and lying-in women(P> 0 .05) .The incidence of hypertensive disorder complicating pregnancy ,twin-twin transfusion syndrome ,single intrauterine fetal demise and fetal abnormalities of research group were significantly higher than control group .Small for gestational age ,asphyxia neonatorum ,neonatal occupancy in NICU and perinatal mortality were obviously higher in study group than that in the control group (P<0 .05) .Conclusion :Maternal complications and perinatal outcomes fo discordant growth twin were poor

  20. Acardiac Parabiotic Fetus: A Rare Complication of Twin Pregnancy

    Directory of Open Access Journals (Sweden)

    Sood S

    2015-10-01

    Full Text Available Acardiac parabiotic fetus is sequelae of complication of monochorionic monoamniotic twin pregnancy also known as Twin Reversed Arterial Perfusion Sequence (TRAP. It is rare affecting 1 in 35,000 births and 1 % of monozygotic twins. Acardiac parabiotic twin commonly known as parasite occurs rarely and may lead to high output cardiac failure, hydrops or premature delivery in the pump fetus. In this report, we present a 23 years old primigravida with twin pregnancy, with twin reversed arterial perfusion sequence with one of the twins being acardiac anceps and the other normal pump fetus. This association is relatively uncommon and therefore rarely documented.

  1. Magnetic Resonance Imaging of the Feto-Placentar Unit after Fetoscopic Laser Coagulation for Twin-to-Twin Transfusion Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Huisman, T.A.G.M. [Univ. Children' s Hospital Zuerich (Switzerland). Dept. of Diagnostic Imaging; Lewi, L.; Willi, U.V.; Deprest, J. [Univ. Hospital Gasthuisberg, Leuven (Belgium). Dept. of Obstetrics-Gynaecology; Zimmermann, R. [Univ. Hospital Zurich (Switzerland). Dept. of Obstetrics

    2005-05-01

    Twin-to-twin transfusion syndrome (TTTS) is a severe complication in monochorionic twin pregnancies that results from a hemodynamical imbalance of placentar vascular anstomoses that connect the circulation of both fetuses. In TTTS, a poly/oligohydramnios sequence with high fetal morbidity and mortality rates occurs. Fetoscopic laser coagulation of the placentar anastomoses can limit or prevent fetal injury. The purpose of this report is to present and discuss fetal magnetic resonance imaging as a postoperative imaging tool after fetoscopic laser coagulation.

  2. Fetal growth disorders in twin gestations.

    LENUS (Irish Health Repository)

    Breathnach, Fionnuala M

    2012-06-01

    Twin growth is frequently mismatched. This review serves to explore the pathophysiologic mechanisms that underlie growth aberrations in twin gestations, the prenatal recognition of abnormal twin growth, and the critical importance of stratifying management of abnormal twin growth by chorionicity. Although poor in utero growth of both twins may reflect maternal factors resulting in global uteroplacental dysfunction, discordant twin growth may be attributed to differences in genetic potential between co-twins, placental dysfunction confined to one placenta only, or one placental territory within a shared placenta. In addition, twin-twin transfusion syndrome represents a distinct entity of which discordant growth is a common feature. Discordant growth is recognized as an independent risk factor for adverse perinatal outcome. Intertwin birth weight disparity of 18% or more should be considered to represent a discordance threshold, which serves as an independent risk factor for adverse perinatal outcome. At this cutoff, perinatal morbidity is found to increase both for the larger and the smaller twin within a discordant pair. There remains uncertainty surrounding the sonographic parameters that are most predictive of discordance. Although heightening of fetal surveillance in the face of discordant twin growth follows the principles applied to singleton gestations complicated by fetal growth restriction, the timing of intervention is largely influenced by chorionicity.

  3. Monozygotic twin pairs discordant for Hashimoto's thyroiditis share a high proportion of thyroid peroxidase autoantibodies to the immunodominant region A. Further evidence for genetic transmission of epitopic "fingerprints"

    DEFF Research Database (Denmark)

    Brix, Thomas Heiberg; Hegedüs, Laszlo; Gardas, Andrzej;

    2011-01-01

    Thyroid peroxidase antibodies (TPOAbs) in patients with Hashimoto's thyroiditis (HT) predominantly react with two immunodominant regions (IDR-A, IDR-B). Theoretically, as shown for the level of TPOAbs, the autoantibody epitopic recognition of the IDRs could be under genetic control. To examine this......, we compared the distribution of TPOAb epitopic fingerprints between healthy monozygotic (MZ) co-twins and siblings to patients with clinically overt HT with a control group of euthyroid subjects, matched for sex and age, but without autoimmune thyroid disease (AITD) among their first-degree relatives...

  4. Thrombosis of anastomoses may affect the staging sequence of twin-twin transfusion syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Wijngaard, Jeroen P H M van den; Gemert, Martin J C van [Laser Center, Academic Medical Center-University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam (Netherlands); Ross, Michael G [Department of Obstetrics and Gynecology, Harbor-UCLA School of Medicine, Torrance, CA 90502 (United States)], E-mail: j.p.vandenwijngaard@amc.uva.nl

    2008-03-07

    Twin-twin transfusion syndrome (TTTS) is a severe complication of monozygotic (identical) twins, which share one single monochorionic placenta. It is caused by placental anastomoses which link the two fetoplacental circulations of the twins and allow a chronic net inter-twin transfusion to develop between the fetuses. Clinical presentation of TTTS manifestations has been classified into five different stages. In this paper, we used our computational model of TTTS and examined the possible differences between chronic and rapidly increasing inter-twin transfusion in the simulated TTTS staging sequence. Our results suggest that rapid alterations in the net inter-twin transfusion, e.g. due to thrombosis of placental anastomoses, may produce a different staging sequence than in TTTS caused by chronic inter-twin transfusion. These results may aid an improved knowledge of TTTS pathophysiology under conditions of a rapidly changing cardiovascular function, and contribute to the planning of optimal intervention under such circumstances. (note)

  5. Ductus venosus Doppler at 11 to 13 weeks of gestation in the prediction of outcome in twin pregnancies.

    Science.gov (United States)

    Maiz, Nerea; Staboulidou, Ismini; Leal, Antonio M; Minekawa, Ryoko; Nicolaides, Kypros H

    2009-04-01

    To examine the independent contribution of abnormal flow in the ductus venosus at 11 to 13 weeks of gestation in the prediction of adverse pregnancy outcome in relation to chorionicity. This was a prospective study in 516 dichorionic and 179 monochorionic twin pregnancies in which the fetal ductus venosus flow was assessed at 11 0/7 to 13 6/7 weeks of gestation. The prevalence of reversed a-wave in the fetal ductus venosus was compared between monochorionic and dichorionic pregnancies and between those with and without pregnancy complications. Comparisons between each of the pregnancy outcomes and the normal outcome group and between monochorionic and dichorionic pregnancies were made using the Mann-Whitney U-test for continuous variables and the chi2 test and Fisher exact test for categorical variables. The prevalence of reversed a-wave in at least one of the fetuses was significantly higher in monochorionic than in dichorionic pregnancies (18.4% compared with 8.3%, P<.001) and in pregnancies complicated by miscarriage (28.6%, P=.005), fetal aneuploidy (70.0%, P<.001), and twin-twin transfusion syndrome (38.5%, P<.001) compared with the pregnancies with two healthy live births (7.7%). Pregnancy outcome was normal in 33 of the 43 (76.7%) dichorionic and in 14 of the 33 (42.4%) monochorionic twins with reversed a-wave in at least one of the fetuses. In twins, reversed a-wave in the ductus venosus at 11 to 13 weeks of gestation is associated with increased risk for aneuploidies, miscarriage, and development of severe twin-twin transfusion syndrome. However, in about 75% of dichorionic twins and 40% of monochorionic twins with reversed a-wave, the pregnancy outcome is normal. II.

  6. Energy expenditure, body composition and insulin response to glucose in male twins discordant for the Trp64Arg polymorphism of the beta3-adrenergic receptor gene

    DEFF Research Database (Denmark)

    Højlund, K; Christiansen, C; Bjørnsbo, K S;

    2006-01-01

    and environmental background, the Trp64Arg polymorphism of the beta3AR gene is associated with lower fat mass, fasting insulin levels and an appropriate insulin response to glucose. Thus, heterozygosity for the Trp64Arg variant is unlikely to increase the risk of obesity, insulin resistance or type 2 diabetes.......AIM: The tryptophan to arginine change in position 64 (Trp64Arg) polymorphism of the beta3-adrenergic receptor (beta3AR) gene has been associated with an increased prevalence of obesity, insulin resistance and type 2 diabetes. In this, decreased rates of energy expenditure and impaired insulin......-ray absorptiometry scanning and energy expenditure by indirect and direct calorimetry. RESULTS: Twins heterozygous for the Trp64Arg polymorphism showed significantly lower fat mass independent of the method used, and significantly lower fasting insulin and glucose concentrations compared with their homozygous wild...

  7. The effect of chorionicity and twin-to-twin delivery time interval on short-term outcome of the second twin

    DEFF Research Database (Denmark)

    Hjortø, Sofie; Nickelsen, Carsten; Petersen, Janne;

    2013-01-01

    Abstract Objectives: To investigate the effect of chorionicity and twin-to-twin delivery time interval on short-term outcome in the second twin. Additionally, to investigate predictors of adverse outcome in both twins. Methods: Data included vaginally delivered twins (≥ 36 weeks) from Copenhagen...... University Hospitals (2001-09). The association between delivery interval and adverse outcome parameters were compared for monochorionic (MC) and dichorionic (DC) twins by multiple linear regression. Predictors were studied by logistic regression. Results: There were 554 twin pairs: 57 MC and 485 DC. We...... found no difference in the decrease of pH (p = 0.912) and Apgar (p = 0.609) in relation to increasing time interval. Neonatal unit (NICU) admissions did not differ (p = 0.167). Apgar ≤ 7 (p twin, whereas first (p = 0.001) or second (p twin Apgar...

  8. NOTE: Increasing cardiac output and decreasing oxygenation sequence in pump twins of acardiac twin pregnancies

    Science.gov (United States)

    van Gemert, Martin J. C.; Umur, Asli; van den Wijngaard, Jeroen P. H. M.; Van Bavel, Ed; Vandenbussche, Frank P. H. A.; Nikkels, Peter G. J.

    2005-02-01

    An acardiac twin pregnancy is a rare but serious complication of monochorionic twinning and consists of an acardiac twin and a pump twin. The acardiac twin is a severely malformed fetus that lacks most organs, particularly a heart, but grows during pregnancy because it is perfused by the developmentally normal pump twin via a set of arterioarterial and venovenous placental anastomoses. Pump twins die intrauterine or neonatally in about 50% of the cases. Because the effects of an acardiac mass on the pump twin's development are incompletely known, methods for outcome prognosis are currently not available. We sought to derive simple relations for the pump twin's excess cardiac output and decreased oxygenation and to use available clinical cases for a preliminary test of the model. As a method, we used a theoretical flow model to represent the fetoplacental circulation of an acardiac twin pregnancy and estimated blood deoxygenation and reoxygenation following perfusion of the two bodies and placentas, respectively. The results show the pump twin's excess cardiac output and decrease of venous oxygen saturation to depend on the ratio of pump twin to acardiac twin umbilical blood flow, whose ratio can be measured by ultrasonography. The clinical cases show a decreasing umbilical flow ratio with gestation. In conclusion, prospective serial study is necessary to test whether measurement of umbilical flow ratios allows monitoring the pump twin's pathophysiologic development, possibly resulting in a guideline for prognosis of pump twin survival.

  9. Increasing cardiac output and decreasing oxygenation sequence in pump twins of acardiac twin pregnancies

    Energy Technology Data Exchange (ETDEWEB)

    Gemert, Martin J C van [Laser Center and Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam (Netherlands); Umur, Asli [Laser Center and Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam (Netherlands); Wijngaard, Jeroen P H M van den [Laser Center and Department of Obstetrics and Gynecology, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam (Netherlands); VanBavel, Ed [Department of Medical Physics, Academic Medical Center, University of Amsterdam, Amsterdam (Netherlands); Vandenbussche, Frank P H A [Department of Obstetrics, Leiden University Medical Center, Leiden (Netherlands); Nikkels, Peter G J [Department of Pathology, University Medical Center, Utrecht (Netherlands)

    2005-02-07

    An acardiac twin pregnancy is a rare but serious complication of monochorionic twinning and consists of an acardiac twin and a pump twin. The acardiac twin is a severely malformed fetus that lacks most organs, particularly a heart, but grows during pregnancy because it is perfused by the developmentally normal pump twin via a set of arterioarterial and venovenous placental anastomoses. Pump twins die intrauterine or neonatally in about 50% of the cases. Because the effects of an acardiac mass on the pump twin's development are incompletely known, methods for outcome prognosis are currently not available. We sought to derive simple relations for the pump twin's excess cardiac output and decreased oxygenation and to use available clinical cases for a preliminary test of the model. As a method, we used a theoretical flow model to represent the fetoplacental circulation of an acardiac twin pregnancy and estimated blood deoxygenation and reoxygenation following perfusion of the two bodies and placentas, respectively. The results show the pump twin's excess cardiac output and decrease of venous oxygen saturation to depend on the ratio of pump twin to acardiac twin umbilical blood flow, whose ratio can be measured by ultrasonography. The clinical cases show a decreasing umbilical flow ratio with gestation. In conclusion, prospective serial study is necessary to test whether measurement of umbilical flow ratios allows monitoring the pump twin's pathophysiologic development, possibly resulting in a guideline for prognosis of pump twin survival. (note)

  10. Epigenetic Epidemiology of Complex Diseases Using Twins

    DEFF Research Database (Denmark)

    Tan, Qihua

    2013-01-01

    through multiple epigenetic mechanisms. This paper reviews the new developments in using twins to study disease-related epigenetic alterations, links them to lifetime environmental exposure with a focus on the discordant twin design and proposes novel data-analytical approaches with the aim of promoting...... a more efficient use of twins in epigenetic studies of complex human diseases....

  11. Twin-twin transfusion syndrome: neurodevelopmental screening test

    Directory of Open Access Journals (Sweden)

    Amabile Vessoni Arias

    2015-03-01

    Full Text Available Objective To assess the neurodevelopmental functions (cognition, language and motor function of survivors of twin-twin transfusion syndrome (TTTS. Method Observational cross-sectional study of a total of 67 monochorionic diamniotic twins who underwent fetoscopic laser coagulation (FLC for treatment of TTTS. The study was conducted at the Center for Investigation in Pediatrics (CIPED, Universidade Estadual de Campinas. Ages ranged from one month and four days to two years four months. Bayley Scales of Infant and Toddler Development Screening Test-III, were used for evaluation. Results Most children reached the competent category and were classified as having appropriate performance. The preterm children scored worse than term infants for gross motor subtest (p = 0.036. Conclusion The majority of children reached the expected development according to their age. Despite the good neurodevelopment, children classified at risk should be monitored for development throughout childhood.

  12. Socioeconomic position and twins' health

    DEFF Research Database (Denmark)

    Osler, Merete; McGue, Matt; Christensen, Kaare

    2007-01-01

    of middle-aged Danish twins was conducted in 1998-99. The study population included 1266 like-sex twin pairs [52.5% monozygotic (MZ) and 47.6% dizygotic (DZ)]. Data were obtained on childhood and adult social class and on height, BMI, grip strength, depression symptoms, self-rated health, cognitive function......, prenatal and rearing environmental factors from environmental factor later in life, we compared the health status among male and female twin pairs who lived together during childhood and were discordant or concordant on adult socioeconomic position. METHODS: A cross-sectional survey among a random sample......, physical activity, smoking, alcohol and food intake. RESULTS: The expected associations between the individual twins' adult social class and health measures were observed. Among DZ male twins discordant on adult social class, the higher social class twin was on average significantly taller and had higher...

  13. Unequal but monozygous: a history of twin-twin transfusion syndrome.

    Science.gov (United States)

    Obladen, Michael

    2010-03-01

    Twin-twin transfusion is the major cause of mortality and morbidity in monochorionic twins. Its pathogenesis has been gradually elucidated over the last three centuries. Among obstetricians, there was a long-lasting controversy on the existence of placental anastomoses and whether or not to tie the placental end of the firstborn infant's cord. However, a twin pregnancy practically never could be excluded. Stalpart van der Wiel described a twin-twin vessel connection in 1687. Studies on interfetal anastomoses using injection of placental vessels were published by Smellie in 1752, Osiander in 1781, and Brachet in 1821. Different types of anastomoses, and their associated fetal disorders were classified by Schatz in a series of papers at the end of the 19(th) century. With the advent of ultrasound and laser techniques, prenatal diagnosis and treatment became available in the last decade of the 20(th) century.

  14. Monogamy of Quantum Discord

    CERN Document Server

    Ren, Xi-Jun

    2011-01-01

    Quantum discord is not monogamous. We consider a pure tripartite state and show that the monogamy inequality of quantum discord is related with a relation between quantum mutual information and entanglement of formation of two parties. The upper bounds of quantum discord and classical correlation are presented. Our results relate the correlations present in a bipartite system with the monogamy or polygamy property of quantum discord in a tripartite pure state. The relation, which is about three important concepts in quantum information theory, quantum discord, entanglement of formation and mutual information, may provide new insights for their further understanding.

  15. Twin Reversed Arterial Perfusion Sequence: A Rare Entity

    Science.gov (United States)

    Khanduri, Sachin; Chhabra, Saakshi; Raja, Anshul; Bhagat, Saurav

    2015-01-01

    Twin reversed arterial perfusion (TRAP) sequence is an extremely rare complication of monochorionic multi-fetal pregnancy, occurring once in 35,000 births. This condition is characterized by a malformed fetus without a cardiac pump being perfused by a structurally normal (pump) twin via an artery-to-artery anastomosis in a reverse direction. We report a case of a primigravida, who came for routine antenatal checkup to our hospital at 31 weeks gestational age. Ultrasound imaging and magnetic resonance imaging revealed twin monochorionic intrauterine pregnancy with a viable, normal-appearing first twin and amorphous structured second twin connected by umbilical vessels. The patient was monitored with weekly ultrasonography, echocardiography, and Doppler ultrasound examination to ascertain the well-being of the pump twin. She delivered successfully at term a normal live baby and an acardius acephalus fetus. Plain X-ray of the acardius acephalus fetus confirmed the absence of cephalic structures. The perinatal mortality of the pump twin ranges from 35 to 55%; hence, it is essential to diagnose the presence of a pump twin at an early gestational age through improved imaging techniques, so that intervention can be planned early in the pregnancy for a better outcome of the pump twin. PMID:25861543

  16. Renal failure of the surviving fetus after intrauterine death of the co-twin.

    Science.gov (United States)

    Giannantonio, Carmen; Semeraro, Carla Maria; Fioretti, Maria; Molisso, Anna; Lio, Alessandra; Gallini, Francesca; Papacci, Patrizia; Romagnoli, Costantino

    2012-10-01

    Twin pregnancies are considered at a higher risk for fetal mortality than singleton pregnancies. The antenatal death of one of the twins is associated with an increasing rate of cerebral impairment and lesions in other organs in the surviving fetus, especially if the pregnancy is monochorionic. We describe a case of isolate renal failure becoming evident gradually after birth in a surviving twin after the antenatal death of the co-twin. Considering the deleterious effects of vascular disruption in a surviving twin, our findings suggest careful investigation of renal function, even if no intrauterine signs of diminished renal function were previously detected.

  17. Treatment of twin-twin transfusion syndrome by fetoscopic laser photocoagulation

    Institute of Scientific and Technical Information of China (English)

    劉子建; 梁德楊; 馮德源; 梁子昂

    2004-01-01

    @@ Twin-twin transfusion syndrome (TTTS) is a serious obstetric complication, occurring in about 15% of monochorionic (MC) twin pregnancies. If untreated, the prognosis is poor, with an overall perinatal mortality of 80%.1 It is now clear that TTTS is the result of an unbalanced unidirectional blood flow through placental arteriovenous anastomoses (also termed deep anastomoses) between the two fetal circulations.2 The donor twin progressively becomes anemic, and develops growth restriction, oliguria, and oligohydramnios/anhydramnios; whereas the recipient becomes plethoric and polyuric, and develops congestive heart failure, cardiomegaly, polyhydramnios and fetal hydrops. Preterm labor is common because of gross polyhydramnios, and further deteriorations will lead to intrauterine death of both twins.

  18. The effect of chorionicity and twin-to-twin delivery time interval on short-term outcome of the second twin.

    Science.gov (United States)

    Hjortø, Sofie; Nickelsen, Carsten; Petersen, Janne; Secher, Niels Jørgen

    2014-01-01

    To investigate the effect of chorionicity and twin-to-twin delivery time interval on short-term outcome in the second twin as well as to investigate the predictors of adverse outcome in both twins. Data included vaginally delivered twins (≥36 weeks) from Copenhagen University Hospitals (2001-2009). The association between delivery interval and adverse outcome parameters was compared for monochorionic (MC) and dichorionic (DC) twins by multiple linear regression. Predictors were studied by logistic regression. There were 554 twin pairs, of which 57 were MC and 485 DC. We found no difference in the decrease of pH (p = 0.912) and Apgar (p = 0.609) in relation to increasing time interval. Neonatal unit (NICU) admissions did not differ (p = 0.167). Apgar ≤7 (p < 0.001) and pH ≤ 7.20 (p = 0.002) increased first twin risk of NICU admission, whereas first (p = 0.001) or second (p < 0.001) twin Apgar ≤7 and second twin pH ≤7.00 (p = 0.003) increased second twin risk of NICU admission. Increasing delivery interval was associated with a significant decrease in pH and Apgar, but there was no difference between MC and DC twins. Low Apgar of the first twin increased the risk of second twin NICU admission.

  19. The Concordance and Heritability of Type 2 Diabetes in 34,166 Twin Pairs From International Twin Registers

    DEFF Research Database (Denmark)

    Willemsen, G.; Ward, K. J.; Bell, C. G.

    2015-01-01

    Twin pairs discordant for disease may help elucidate the epigenetic mechanisms and causal environmental factors in disease development and progression. To obtain the numbers of pairs, especially monozygotic (MZ) twin pairs, necessary for in-depth studies while also allowing for replication, twin...... studies worldwide need to pool their resources. The Discordant Twin (DISCOTWIN) consortium was established for this goal. Here, we describe the DISCOTWIN Consortium and present an analysis of type 2 diabetes (T2D) data in nearly 35,000 twin pairs. Seven twin cohorts from Europe (Denmark, Finland, Norway......, the Netherlands, Spain, Sweden, and the United Kingdom) and one from Australia investigated the rate of discordance for T2D in same-sex twin pairs aged 45 years and older. Data were available for 34,166 same-sex twin pairs, of which 13,970 were MZ, with T2D diagnosis based on self-reported diagnosis...

  20. Can color difference on the maternal side of the placenta distinguish between acute peripartum twin-twin transfusion syndrome and twin anemia-polycythemia sequence?

    Science.gov (United States)

    Tollenaar, Lisanne S A; Zhao, Danny P; Middeldorp, Johanna M; Oepkes, Dick; Slaghekke, Femke; Lopriore, Enrico

    2017-09-01

    To investigate the color difference between two placental shares in monochorionic placentas with acute peripartum twin-twin transfusion syndrome (TTTS) and twin anemia-polycythemia sequence (TAPS). We evaluated all digital pictures of TAPS, acute peripartum TTTS and a control group of uncomplicated monochorionic placentas examined at our center. We determined the color intensity of the individual placental share on the maternal side of each monochorionic placenta using an image-processing program and calculated the color difference ratio (CDR). Digital pictures of 5 acute peripartum TTTS, 25 TAPS and 54 control group placentas were included in this study. The median CDR in acute peripartum TTTS was significantly lower compared to TAPS placentas, 1.20 (inter-quartile range (IQR) 1.05-1.20) and 2.50 (IQR 1.85-3.34), respectively (p < 0.01), and was comparable to the control group (CDR 1.11, IQR 1.05-1.22). TAPS placentas have a higher CDR compared to acute peripartum TTTS placentas. Examining color difference on the maternal side of the placenta might help distinguish between acute peripartum TTTS and TAPS. Copyright © 2017 Elsevier Ltd. All rights reserved.

  1. Ultrasound-Guided Bipolar Umbilical Cord Occlusion in Complicated Monochorionic Pregnancies

    DEFF Research Database (Denmark)

    Schou, Katrine V; Jensen, Lisa N; Jørgensen, Connie

    2017-01-01

    INTRODUCTION: Ultrasound-guided bipolar umbilical cord occlusion (UCO) is used in complicated monochorionic multiple pregnancies in Denmark. The aim of this study was to assess a learning curve in the procedure of UCO. MATERIALS AND METHODS: One hundred and two monochorionic pregnancies treated...

  2. Class - III malocclusion: Genetics or environment? A twins study

    OpenAIRE

    Jena A; Duggal R; Mathur V; Parkash H

    2005-01-01

    Etiology of class-III malocclusion is generally believed to be genetic. A wide range of environmental factors have been suggested as contributing factors for the development of class-III malocclusion. Twin study is one of the most effective methods available for investigating genetically determined variables of malocclusion. Discordancy for class-III malocclusion is a frequent finding in dizygotic twins. However, class-III malocclusion discordancy in monozygotic twins is a rare finding. The p...

  3. Prenatal diagnosis of chorionicity in twins.

    LENUS (Irish Health Repository)

    Hassan, T

    2012-02-01

    The aim of this audit was to assess the accuracy of transabdominal ultrasound scan in predicting chorionicity in twin pregnancies in our unit. The presence or absence of lambda sign, T-sign, dividing membrane thickness and number of placentae were used to determine chorionicity. We retrospectively analysed these antenatal markers in 268 sets of twins delivered over a 5 year period and compared it with the postpartum placental histology and neonatal gender. Of 268 twin deliveries, 204 (76%) had both chorionicity and placental histology to compare. 67 of 84 (80%) were correctly diagnosed antenatally as monochorionic and 137 of 151 (91%) as dichorionic. In 31 cases (15%) the ultrasound diagnosis of chorionicity didn\\'t match placental histology. Seventeen were thought to be monochorionic antenatally but were confirmed dichorionic on placental histology. Overall chorionicity was correctly diagnosed in 171\\/204 (84%) using transabdominal ultrasound scan (USS) in all trimesters. However the sensitivity and specificity of USS was much higher for dichorionic twins when carried out before 14 weeks of gestation.

  4. First trimester risk assessment for trisomy 21 in twin pregnancies combining nuchal translucency and first trimester biochemical markers.

    Science.gov (United States)

    Prats, Pilar; Rodríguez, Ignacio; Comas, Carmina; Puerto, Bienvenido

    2012-10-01

    The aim is to describe the performance of first-trimester combined risk assessment in twin pregnancies. Maternal serum free beta-human chorionic gonadotrophin and pregnancy-associated plasma protein A (PAPP-A) were determined at 8 to 12 weeks and fetal nuchal translucency (NT) was measured at 11 to 13+6 weeks. The individual risk was estimated for each fetus using the combined test in dichorionic twins. In monochorionic twins, the mean risk assessment of the two fetuses was used. An invasive diagnostic procedure was offered when the risk was ≥ 1 : 270 in either one of the fetuses. From February 2007 to June 2011, 447 twin pregnancies were enrolled in this study. There were 402 (89.9%) dichorionic and 45 (10.1%) monochorionic twins. In dichorionic twins, mean crown-rump length (CRL) was 63.9 mm; median NT multiples of the median (MoM) was 0.97; median Β-hCG was MoM 1.74; median PAPP-A was 1.72. In monochorionic twins, mean CRL was 61.9 mm; median NT MoM was 0. 98; median Β-hCG MoM was 1.44; and median PAPP-A was 1.51. Two pregnancies with Down syndrome were detected by first trimester screening, both in dichorionic twins. The false positive rate was 5.7% (95% confidence interval 4.1-7.3) and 4.4% (95% confidence interval 0.1-8.8%) in dichorionic and monochorionic twins, respectively. The combined test in twins appears to be a good method for Down syndrome screening with a high detection rate and an acceptable false-positive rate. © 2012 John Wiley & Sons, Ltd.

  5. Screening for trisomy 21 in twin pregnancies in the first trimester: does chorionicity impact on maternal serum free beta-hCG or PAPP-A levels?

    Science.gov (United States)

    Spencer, K

    2001-09-01

    In a study of 180 twin pregnancies I have examined the distribution of maternal serum free beta-human chorionic gonadotrophin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A), in addition to fetal nuchal translucency thickness (NT), in twins classified as monochorionic or dichorionic, based on ultrasound appearance at 10-14 weeks of gestation. In 45 monochorionic and 135 dichorionic twin pregnancies the median MoM free beta-hCG was not significantly different (1.00 vs 1.01), whilst that for PAPP-A was lower (0.89 vs 1.01) but again with no statistical significance. Previous reports of an increased fetal NT in monochorionic twins pregnancies could not be confirmed (1.03 vs 1.00). It is concluded that the existing pseudo risk twin correction algorithm is appropriate for both monochorionic and dichorionic twins in providing accurate first trimester risks for trisomy 21. Copyright 2001 John Wiley & Sons, Ltd.

  6. NOTE: Thrombosis of anastomoses may affect the staging sequence of twin twin transfusion syndrome

    Science.gov (United States)

    van den Wijngaard, Jeroen P. H. M.; Ross, Michael G.; van Gemert, Martin J. C.

    2008-03-01

    Twin-twin transfusion syndrome (TTTS) is a severe complication of monozygotic (identical) twins, which share one single monochorionic placenta. It is caused by placental anastomoses which link the two fetoplacental circulations of the twins and allow a chronic net inter-twin transfusion to develop between the fetuses. Clinical presentation of TTTS manifestations has been classified into five different stages. In this paper, we used our computational model of TTTS and examined the possible differences between chronic and rapidly increasing inter-twin transfusion in the simulated TTTS staging sequence. Our results suggest that rapid alterations in the net inter-twin transfusion, e.g. due to thrombosis of placental anastomoses, may produce a different staging sequence than in TTTS caused by chronic inter-twin transfusion. These results may aid an improved knowledge of TTTS pathophysiology under conditions of a rapidly changing cardiovascular function, and contribute to the planning of optimal intervention under such circumstances. Supported in part by the European Community Euro-twin-2-twin project (JPHMvdW) and by the National Institutes of Health, grant HL40899 (MGR).

  7. Discordant Non-Invasive Prenatal Testing (NIPT) - a systematic review

    DEFF Research Database (Denmark)

    Hartwig, Tanja Schlaikjær; Ambye, Louise; Sørensen, Steen

    2017-01-01

    and explanation were specified. The main reasons for discordant results were, confined placental mosaicism, maternal copy number variations, vanished twins, maternal cancer and true fetal mosaicism. A very high percentage of cases (67%) were reported with no obvious biological or technical explanation...

  8. Twin-to-twin transfusion syndrome: an anti-angiogenic state?

    Science.gov (United States)

    KUSANOVIC, Juan Pedro; ROMERO, Roberto; ESPINOZA, Jimmy; NIEN, Jyh Kae; KIM, Chong Jai; MITTAL, Pooja; EDWIN, Sam; EREZ, Offer; GOTSCH, Francesca; MAZAKI-TOVI, Shali; THAN, Nandor G.; SOTO, Eleazar; CAMACHO, Natalia; GOMEZ, Ricardo; QUINTERO, Ruben; HASSAN, Sonia S.

    2008-01-01

    Objective An imbalanced chronic blood flow between the donor and recipient twin through placental vascular anastomoses is the accepted pathophysiology of twin-to-twin transfusion syndrome (TTTS). Vascular endothelial growth factor receptor-1 (VEGFR-1) mRNA is overexpressed only in the syncytiotrophoblast of the donor twin in some cases of TTTS. This study was conducted to determine maternal plasma concentrations of placental growth factor (PlGF), soluble VEGFR-1, and soluble endoglin (s-Eng) in monochorionic-diamniotic pregnancies with and without TTTS. Study design This case-control study included monochorionic-diamniotic pregnancies between 16–26 weeks with and without TTTS. Maternal plasma concentrations of PlGF, sVEGFR-1 and s-Eng were determined with ELISA. A p-value <.05 was considered statistically significant. Results Patients with TTTS had higher median plasma concentrations of s-Eng [14.8 ng/ml vs. 7.8 ng/ml; p<0.001] and sVEGFR-1 [6383.1 pg/ml vs. 3220.1 pg/ml; p<0.001]; and lower median plasma concentrations of PlGF [115.5 pg/ml vs. 359.3 pg/ml; p=0.002] than those without TTTS. Conclusions We propose that an anti-angiogenic state may be present in some cases of TTTS. PMID:18395032

  9. Dichorionic triamniotic triplet pregnancy complicated by twin anemia polycythemia sequence: the place of fetal therapy.

    Science.gov (United States)

    Griersmith, Thérèse H; Fung, Alison M; Walker, Susan P

    2014-12-01

    Monochorionic twins as part of a high order multiple pregnancy can be an unintended consequence of the increasingly common practice of blastocyst transfer for couples requiring in vitro fertilisation (IVF) for infertility. Dichorionic triamniotic (DCTA) triplets is the most common presentation, and these pregnancies are particularly high risk because of the additional risks associated with monochorionicity. Surveillance for twin-to-twin transfusion syndrome, including twin anemia polycythemia sequence, may be more difficult, and any intervention to treat the monochorionic pair needs to balance the proposed benefits against the risks posed to the unaffected singleton. Counseling of families with DCTA triplets is therefore complex. Here, we report a case of DCTA triplets, where the pregnancy was complicated by threatened preterm labour, and twin anemia polycythemia sequence (TAPS) was later diagnosed at 28 weeks. The TAPS was managed with a single intraperitoneal transfusion, enabling safe prolongation of the pregnancy for over 2 weeks until recurrence of TAPS and preterm labour supervened. Postnatal TAPS was confirmed, and all three infants were later discharged home at term corrected age, and were normal at follow-up. This case highlights that in utero therapy has an important role in multiple pregnancies of mixed chorionicity, and can achieve safe prolongation of pregnancy at critical gestations.

  10. Epigenetic Epidemiology of Complex Diseases Using Twins

    DEFF Research Database (Denmark)

    Tan, Qihua

    2013-01-01

    In the past decades, studies on twins have had a great impact on dissecting the genetic and environmental contributions to human diseases and complex traits. In the era of functional genomics, the valuable samples of twins help to bridge the gap between gene activity and environmental conditions...... through multiple epigenetic mechanisms. This paper reviews the new developments in using twins to study disease-related epigenetic alterations, links them to lifetime environmental exposure with a focus on the discordant twin design and proposes novel data-analytical approaches with the aim of promoting...... a more efficient use of twins in epigenetic studies of complex human diseases....

  11. Testing for Neuropsychological Endophenotypes in Siblings Discordant for ADHD

    Science.gov (United States)

    Bidwell, L. Cinnamon; Willcutt, Erik G.; DeFries, John C.; Pennington, Bruce F.

    2007-01-01

    Objective Neurocognitive deficits associated with attention deficit-hyperactivity disorder (ADHD) may be useful intermediate endophenotypes for determining specific genetic pathways that contribute to ADHD. Methods This study administered 17 measures from prominent neuropsychological theories of ADHD (executive function, processing speed, arousal regulation and motivation/delay aversion) in dizygotic (DZ) twin pairs discordant for ADHD and control twin pairs (ages 8–18) in order to compare performance between twins affected with ADHD (n = 266), their unaffected co-twins (n = 228), and control children from twin pairs without ADHD or learning difficulties (n = 332). Results ADHD subjects show significant impairment on executive function, processing speed, and response variability measures compared to control subjects. Unaffected cotwins of ADHD subjects are significantly impaired on nearly all the same measures as their ADHD siblings, even when subclinical symptoms of ADHD are controlled. Conclusion Executive function, processing speed, and response variability deficits may be useful endophenotypes for genetic studies of ADHD. PMID:17585884

  12. Incidences of Feto-Fetal Transfusion Syndrome and Perinatal Outcomes in Triplet Gestations with Monochorionic Placentation.

    Science.gov (United States)

    Sato, Yuka; Ishii, Keisuke; Yokouchi, Tae; Murakoshi, Takeshi; Kiyoshi, Kenji; Nakayama, Soichiro; Yonetani, Naoto; Mitsuda, Nobuaki

    2016-01-01

    This study aimed to determine the incidences of feto-fetal transfusion syndrome (FFTS) and perinatal outcomes in triplet gestations with monochorionic placentation. In this retrospective cohort study, we evaluated the incidences of FFTS and perinatal outcomes at 28 days of age in cases of triplet gestations with monochorionic placentation who visited our centers before 16 weeks of gestation and delivered over a period of 11 years. In 41 triplet gestations (17 monochorionic triamniotic, 22 dichorionic triamniotic, 1 dichorionic diamniotic, and 1 monochorionic monoamniotic), the incidence of FFTS was 17.1%, and the median gestational age at FFTS diagnosis was 19 weeks. In 123 triplets, the incidences of fetal death and neonatal death at 28 days of age were 8.1 and 0.9%, respectively. None of the surviving infants had grade 3 or 4 intraventricular hemorrhage, while cystic periventricular leukomalacia occurred in 6 of 113 infants (5.3%). The incidence of poor outcomes (death or any major neurological complication at 28 days of age) was 13.8%. Seventeen percent of triplet pregnancies with monochorionic placentation developed FFTS, and 14% had a poor outcome. Therefore, triplet gestations with monochorionic placentation should be followed carefully. © 2016 S. Karger AG, Basel.

  13. Class - III malocclusion: Genetics or environment? A twins study

    Directory of Open Access Journals (Sweden)

    Jena A

    2005-03-01

    Full Text Available Etiology of class-III malocclusion is generally believed to be genetic. A wide range of environmental factors have been suggested as contributing factors for the development of class-III malocclusion. Twin study is one of the most effective methods available for investigating genetically determined variables of malocclusion. Discordancy for class-III malocclusion is a frequent finding in dizygotic twins. However, class-III malocclusion discordancy in monozygotic twins is a rare finding. The purpose of this study of monozygotic twins is to assess the genetic and environmental components of variation within the cranio-dento-facial complex.

  14. Twin Reversed Arterial Perfusion (TRAP Sequence; Characteristic Gray-Scale and Doppler Ultrasonography Findings

    Directory of Open Access Journals (Sweden)

    Buyukkaya

    2015-07-01

    Full Text Available Twin reversed arterial perfusion (TRAP sequence is a syndrome with poor prognosis, seen only in monochorionic monozygotic twin pregnancies. The incidence is one in 35.000 births and one in 100 monozygotic twin pregnancies. It is characterized with a recipient fetus exhibiting lethal anomalies including acardia and a pump fetus. Mortality is usually due to heart failure or premature labor caused by polyhydramnios of pump fetus. Herein, we report a case of TRAP sequence that emphasizes the importance of gray-scale and color Doppler imaging in the diagnosis and management of TRAP sequence.

  15. Twin Reversed Arterial Perfusion (TRAP) Sequence; Characteristic Gray-Scale and Doppler Ultrasonography Findings.

    Science.gov (United States)

    Buyukkaya, Ayla; Tekbas, Guven; Buyukkaya, Ramazan

    2015-07-01

    Twin reversed arterial perfusion (TRAP) sequence is a syndrome with poor prognosis, seen only in monochorionic monozygotic twin pregnancies. The incidence is one in 35.000 births and one in 100 monozygotic twin pregnancies. It is characterized with a recipient fetus exhibiting lethal anomalies including acardia and a pump fetus. Mortality is usually due to heart failure or premature labor caused by polyhydramnios of pump fetus. Herein, we report a case of TRAP sequence that emphasizes the importance of gray-scale and color Doppler imaging in the diagnosis and management of TRAP sequence.

  16. Imperfect twinning: a clinical and ethical dilemma

    Science.gov (United States)

    Denardin, Daniela; Telles, Jorge Alberto B.; Betat, Rosilene da Silveira; Fell, Paulo Renato K.; da Cunha, André Campos; Targa, Luciano Vieira; Zen, Paulo Ricardo G.; Rosa, Rafael Fabiano M.

    2013-01-01

    OBJECTIVE To review the history, epidemiology, etiology, gestational aspects, diagnosis and prognosis of imperfect twinning. DATA SOURCES Scientific articles were searched in PubMed, SciELO and Lilacs databases, using the descriptors "conjoined twins", "multiple pregnancy", "ultrasound", "magnetic resonance imaging" and "prognosis". The research was not delimited to a specific period of time and was supplemented with bibliographic data from books. DATA SYNTHESIS: The description of conjoined twins is legendary. The estimated frequency is 1/45,000-200,000 births. These twins are monozygotic, monochorionic and usually monoamniotic. They can be classified by the most prominent fusion site, by the symmetry between the conjoined twins or by the sharing structure. The diagnosis can be performed in the prenatal period or after birth by different techniques, such as ultrasound, magnetic resonance imaging and echocardiography. These tests are of paramount importance for understanding the anatomy of both fetuses/children, as well as for prognosis and surgical plan determination. CONCLUSIONS Although imperfect twinning is a rare condition, the prenatal diagnosis is very important in order to evaluate the fusion site and its complexity. Hence, the evaluation of these children should be multidisciplinary, involving mainly obstetricians, pediatricians and pediatric surgeons. However, some decisions may constitute real ethical dilemmas, in which different points should be discussed and analyzed with the health team and the family. PMID:24142323

  17. Imperfect twinning: a clinical and ethical dilemma.

    Science.gov (United States)

    Denardin, Daniela; Telles, Jorge Alberto B; Betat, Rosilene da Silveira; Fell, Paulo Renato K; Cunha, André Campos da; Targa, Luciano Vieira; Zen, Paulo Ricardo G; Rosa, Rafael Fabiano M

    2013-09-01

    OBJECTIVE To review the history, epidemiology, etiology, gestational aspects, diagnosis and prognosis of imperfect twinning. DATA SOURCES Scientific articles were searched in PubMed, SciELO and Lilacs databases, using the descriptors "conjoined twins", "multiple pregnancy", "ultrasound", "magnetic resonance imaging" and "prognosis". The research was not delimited to a specific period of time and was supplemented with bibliographic data from books. The description of conjoined twins is legendary. The estimated frequency is 1/45,000-200,000 births. These twins are monozygotic, monochorionic and usually monoamniotic. They can be classified by the most prominent fusion site, by the symmetry between the conjoined twins or by the sharing structure. The diagnosis can be performed in the prenatal period or after birth by different techniques, such as ultrasound, magnetic resonance imaging and echocardiography. These tests are of paramount importance for understanding the anatomy of both fetuses/children, as well as for prognosis and surgical plan determination. CONCLUSIONS Although imperfect twinning is a rare condition, the prenatal diagnosis is very important in order to evaluate the fusion site and its complexity. Hence, the evaluation of these children should be multidisciplinary, involving mainly obstetricians, pediatricians and pediatric surgeons. However, some decisions may constitute real ethical dilemmas, in which different points should be discussed and analyzed with the health team and the family.

  18. Imperfect twinning: a clinical and ethical dilemma

    Directory of Open Access Journals (Sweden)

    Daniela Denardin

    2013-09-01

    Full Text Available OBJECTIVE To review the history, epidemiology, etiology, gestational aspects, diagnosis and prognosis of imperfect twinning. DATA SOURCES Scientific articles were searched in PubMed, SciELO and Lilacs databases, using the descriptors "conjoined twins", "multiple pregnancy", "ultrasound", "magnetic resonance imaging" and "prognosis". The research was not delimited to a specific period of time and was supplemented with bibliographic data from books. DATA SYNTHESIS: The description of conjoined twins is legendary. The estimated frequency is 1/45,000-200,000 births. These twins are monozygotic, monochorionic and usually monoamniotic. They can be classified by the most prominent fusion site, by the symmetry between the conjoined twins or by the sharing structure. The diagnosis can be performed in the prenatal period or after birth by different techniques, such as ultrasound, magnetic resonance imaging and echocardiography. These tests are of paramount importance for understanding the anatomy of both fetuses/children, as well as for prognosis and surgical plan determination. CONCLUSIONS Although imperfect twinning is a rare condition, the prenatal diagnosis is very important in order to evaluate the fusion site and its complexity. Hence, the evaluation of these children should be multidisciplinary, involving mainly obstetricians, pediatricians and pediatric surgeons. However, some decisions may constitute real ethical dilemmas, in which different points should be discussed and analyzed with the health team and the family.

  19. Fetal Cholelithiasis: Antenatal Diagnosis and Neonatal Follow-Up in a Case of Twin Pregnancy – A Case Report and Review of the Literature

    Science.gov (United States)

    Hurni, Yannick; Vigo, Francesco; von Wattenwyl, Begoña Lipp; Ochsenbein, Nicole; Canonica, Claudia

    2017-01-01

    Fetal cholelithiasis is a rare finding during a third-trimester ultrasound with an average incidence rate of 0.07–1.15%. We report a case of fetal cholelithiasis in twins, observed in a patient with monochorionic diamniotic twin pregnancy hospitalized at our unit for signs of premature labor. We present the outcome of the 2 neonates with a clinical and sonographic follow-up. In addition, we offer a comprehensive review of the literature available to date. PMID:28210714

  20. Monozygotic twin pairs discordant for Hashimoto's thyroiditis share a high proportion of thyroid peroxidase autoantibodies to the immunodominant region A. Further evidence for genetic transmission of epitopic “fingerprints”

    DEFF Research Database (Denmark)

    Brix, Thomas Heiberg; Hegedüs, Laszlo; Gardas, Andrzej;

    2010-01-01

    Thyroid peroxidase antibodies (TPOAbs) in patients with Hashimoto's thyroiditis (HT) predominantly react with two immunodominant regions (IDR-A, IDR-B). Theoretically, as shown for the level of TPOAbs, the autoantibody epitopic recognition of the IDRs could be under genetic control. To examine this......, we compared the distribution of TPOAb epitopic fingerprints between healthy monozygotic (MZ) co-twins and siblings to patients with clinically overt HT with a control group of euthyroid subjects, matched for sex and age, but without autoimmune thyroid disease (AITD) among their first-degree relatives...

  1. Optimality of Gaussian discord.

    Science.gov (United States)

    Pirandola, Stefano; Spedalieri, Gaetana; Braunstein, Samuel L; Cerf, Nicolas J; Lloyd, Seth

    2014-10-03

    In this Letter we exploit the recently solved conjecture on the bosonic minimum output entropy to show the optimality of Gaussian discord, so that the computation of quantum discord for bipartite Gaussian states can be restricted to local Gaussian measurements. We prove such optimality for a large family of Gaussian states, including all two-mode squeezed thermal states, which are the most typical Gaussian states realized in experiments. Our family also includes other types of Gaussian states and spans their entire set in a suitable limit where they become Choi matrices of Gaussian channels. As a result, we completely characterize the quantum correlations possessed by some of the most important bosonic states in quantum optics and quantum information.

  2. STUDY OF OBSTETRIC COMPLICATIONS & OUTCOME OF TWIN PREGNANCY

    Directory of Open Access Journals (Sweden)

    Swati

    2014-10-01

    Full Text Available : INTRODUCTION: Twin pregnancy is a rare phenomenon and significantly related to increased maternal & fetal morbidity and mortality as compared to singleton pregnancy. It is important that every physician must know the complications related to twin pregnancy and how to manage these complications. DESIGN: Prospective observational study AIMS AND OBJECTIVE: (1 To study incidence of various obstetric complications in twin pregnancy (2 To study outcome of twin pregnancy in terms of average duration of gestation, mode of delivery & neonatal outcome. METHODS: 59 Patients with sonographically confirmed twin pregnancy attending ante-natal care outpatient department (ANC OPD & labor room at a tertiary care hospital in our Unit in specified period of 18 months as mentioned above were enrolled in this study and followed till delivery and thereafter in the neonatal period. RESULTS: In this study twin pregnancies were slightly more in multigravida. The rate of preterm delivery was 77.9%.PIH & Anaemia was more common in primigravida. Monochorionic twins had more complications than dichorionic twins. NICU admission rate in this study was 23.6%, perinatal mortality rate was 16.9% and neonatal mortality rate was 12.2%. CONCLUSION: Twinning in pregnancy is a high risk factor which can cause various maternal as well fetal complications. Prompt ANC care and timely intervention is required to avoid these complications.

  3. The effect of intrauterine growth on mental and psychomoter development in one-year-old discordant twins infants%宫内发育不一致性双胎出生后1年婴儿生长发育的研究

    Institute of Scientific and Technical Information of China (English)

    项慧秋; 黄贤苹; 金佳希; 邵浩然; 池美珠; 林峰; 许张晔

    2016-01-01

    目的:研究宫内发育不一致性双胎出生后1年左右婴儿的生长发育,评估发育不一致性双胎远期婴儿的生长发育情况。方法:2012年1月至2013年12月在温州医科大学附属第一医院和附属第二医院出生的宫内发育不一致性双胎34对,出生后1年左右进行体格检查和精神运动发育测定,以出生时的体质量差异分为低出生体质量组和高出生体质量组。结果:低出生体质量组1岁婴儿身高、体质量及头围均低于高出生体质量组,差异有统计学意义(P<0.05)。低出生体质量组的1岁婴儿精神发育指数(MDI)和运动发育指数(PDI)均低于高出生体质量组,2组比较,PDI差异有统计学意义(P<0.05),而MDI差异无统计学意义(P>0.05)。低出生体质量组6名(占17.6%)1岁婴儿运动发育迟缓(PDI<70),明显高于高出生体质量组(1名,占2.9%)运动发育迟缓的发生率(P<0.05)。多元线性回归分析显示身高、体质量对PDI的影响有显著的统计学意义(F=11.40,P=0.0012;F=6.21,P=0.0153)。结论:发育不一致性双胎出生后的体质量差异将持续性影响至出生后1年婴儿的身高、体质量和头围的体格发育以及运动发育。%Objective: To assess the effect of intrauterine growth on mental and psychomoter development in one-year-old discordant twins infants.Methods: Total of 34 discordant twin pregnancies (68 one-year-old dis-cordant twins infants) with complete delivery records in Obstetrics department of the First and Second Afifliated Hospital of Wenzhou Medical University from January 2012 to December 2013 were followed-up. According to the discordant birthweight, each pair infant was divided into small weight group and large weight group. Weight, length, head circumferences, the mental developmental index (MDI) and psychomotor developmental index (PDI) were measured.Results: Small weight group was lower

  4. Conjoined Twins

    Science.gov (United States)

    ... sites of conjoined twins. Abdomen. Omphalopagus (om-fuh-LOP-uh-gus) twins are joined near the bellybutton. ... brain tissue. Head and chest. Cephalopagus (sef-uh-LOP-uh-gus) twins are joined at the face ...

  5. Danish cohort of monozygotic inflammatory bowel disease twins

    DEFF Research Database (Denmark)

    Moller, Frederik Trier; Knudsen, Lina; Harbord, Marcus

    2016-01-01

    comprised 31 UC, 5 IBDU (IBD unclassified), and 8 CD discordant pairs. In the co-twins not affected by IBD, calprotectin was above 100 μg/g in 2 participants, and above 50 μg/g in a further 5 participants. CONCLUSION: The presented IBD twin cohorts are an excellent resource for bioinformatics studies...

  6. Starry sky pattern of fetal liver sonogram as first sign of twin-twin transfusion syndrome.

    Science.gov (United States)

    Segev, Y; Goldberg, Y; Riskin-Mashiah, S; Berdicef, M; Lavie, O; Auslender, R

    2012-06-01

    'Starry sky' liver is one of the most common sonographic patterns in diffuse liver disease. It is characterized by clearly identified portal venules due to diminished parenchymal echogenicity. In advanced cases of twin-to-twin transfusion syndrome (TTTS), volume overload is considered the key factor in the pathogenesis of cardiac dysfunction of the recipient twin. When right-sided failure occurs, the liver might show signs of edema and, as in acute hepatitis, the appearance of starry sky might develop. We present a case in which the sonographic appearance of starry sky liver, along with right-sided cardiac failure (tricuspid regurgitation), were the first signs of TTTS in monochorionic twins at 20 weeks. A short time later, at 21 weeks, other signs of overload and signs of worsening heart failure were noted, as the typical triphasic waves in the inferior vena cava were replaced by a biphasic flow profile. Twin 2 at that time had relative oligohydramnios. A few days later, relative polyhydramnios and edema of the placental domain of the recipient twin were also noted. To the best of our knowledge, this is the first case report describing this hepatic sonographic pattern as an early sonographic sign of TTTS.

  7. There Is a World outside of Experimental Designs: Using Twins to Investigate Causation

    Science.gov (United States)

    Hart, Sara A.; Taylor, Jeanette; Schatschneider, Christopher

    2013-01-01

    This study introduces a co-twin control method commonly used in the medical literature but not often within educational research. This method allows for a comparison of twins discordant for an "exposure," approximating alternative outcomes in the counterfactual model. Example analyses use data drawn from the Florida Twin Project on…

  8. Motor Disorder and Anxious and Depressive Symptomatology: A Monozygotic Co-Twin Control Approach

    Science.gov (United States)

    Pearsall-Jones, Jillian G.; Piek, Jan P.; Rigoli, Daniela; Martin, Neilson C.; Levy, Florence

    2011-01-01

    The aim of this study was to investigate the relationship between poor motor ability and anxious and depressive symptomatology in child and adolescent monozygotic twins. The co-twin control design was used to explore these mental health issues in MZ twins concordant and discordant for a motor disorder, and controls. This methodology offers the…

  9. Motor Disorder and Anxious and Depressive Symptomatology: A Monozygotic Co-Twin Control Approach

    Science.gov (United States)

    Pearsall-Jones, Jillian G.; Piek, Jan P.; Rigoli, Daniela; Martin, Neilson C.; Levy, Florence

    2011-01-01

    The aim of this study was to investigate the relationship between poor motor ability and anxious and depressive symptomatology in child and adolescent monozygotic twins. The co-twin control design was used to explore these mental health issues in MZ twins concordant and discordant for a motor disorder, and controls. This methodology offers the…

  10. Successful fetoscopic laser coagulation for twin-to-twin transfusion syndrome under local anaesthesia.

    LENUS (Irish Health Repository)

    Cooley, S

    2011-06-01

    A review of the efficacy and outcome of fifteen fetoscopic laser ablations under local anaesthesia for twin to twin transfusion syndrome (TTTS) in the National Maternity Hospital Dublin was undertaken. The mean gestation at laser was 19.7 weeks (range 16-25 weeks) with a mean gestation at delivery of 29.1 weeks (range 20-35 weeks). The overall liveborn birth rate was 79% (22 infants) and one pregnancy was still ongoing. There were four neonatal deaths secondary to complications of prematurity. The surviving eighteen infants (64%) undergo regular paediatric review. The procedure was performed successfully in all cases with local anaesthesia. In no case was there maternal discomfort that warranted the procedure to be abandoned and good visual access of the vascular anastamoses was obtained in all cases. Local anaesthesia therefore offers a safe effective anaesthetic option for fetoscopic laser coagulation in monochorionic pregnancies complicated by TTTS.

  11. Situs Inversus Totalis in Twins: A Brief Review and a Life History / Twin Research: Twin Studies of Trisomy 21; Monozygotic Twin Concordance for Bilateral Coronoid Hyperplasia; Prenatal Hormonal Effects in Mixed-Sex Non-Human Primate Litters; Insurance Mandates and Twinning After In Vitro Fertilization / News Reports: First Report of Identical Twin Puppies; Twins Sisters Turn 100; Remembering an Identical Twin Production Designer; New York City Marathon Quadruplets.

    Science.gov (United States)

    Segal, Nancy L

    2017-02-01

    The presence of situs inversus totalis (full reversal of internal organs) in twins is briefly reviewed. Information gathered from 35-year-old monozygotic (MZ) female twin pair discordant for this condition is presented. This is followed by summaries of research on the frequency of trisomy 21 (Down syndrome) in twins, the first case of MZ twin concordance for bilateral coronoid hyperplasia, prenatal hormonal effects in mixed-sex non-human primate litters, and links between insurance mandates and twinning following in vitro fertilization. The final section of this article describes twin-related events reported in the news, namely, the first recorded birth of identical twin puppies; the 100th birthday celebration of a pair of fraternal female twins, the passing of an award-winning identical twin production designer, and the first running of the New York City Marathon by a set of quadruplets.

  12. ACARDIAC TWIN

    OpenAIRE

    Vinayachandran; Jyothi,; Bindu; Umadevi

    2014-01-01

    Acardiac twin is a very rare complication occurring in monozygotic twins in which one fetus develops normally (pump twin) and the other (recipient twin) demonstrate cardiac non development and othe r anomalies. This may represent an extreme form of TTTS, also referred to as TRAP sequence. 1,2,

  13. Acardiac twin pregnancy: successful intrauterine ablative treatment with alcohol at 14 weeks of gestation.

    Science.gov (United States)

    Guven, M A; Koc, O; Bodur, H; Erkanli, S; Bagis, T; Usal, D

    2016-01-01

    Twin reversed arterial perfusion (TRAP) sequence is a serious condition of monochorionic twin pregnancy, occurring in approximately one in 35,000 cases. First trimester treatment of TRAP sequence is controversial with higher incidence of procedure related complications. Present case demonstrates a TRAP sequence that was managed by intrauterine treatment with one-ml 100% pure alcohol injection into the abdominal part of the umbilical artery and obliteration of the acardiac twin at 14 weeks of gestation. Antenatal follow-up was uneventful and elective cesarean section was performed at 39 weeks' gestation. Postnatal outcome of the pump twin was excellent at 30 months after birth. Early second trimester elective ablation by alcohol injection can be an inexpensive, alternative, and reasonable minimal invasive treatment option to prevent fetal loss of pump twin before mid and late second trimester in perinatology centers where intrafetal cord occlusive methods are not available.

  14. Twin pregnancy in a patient of chronic myeloid leukemia on imatinib therapy.

    Science.gov (United States)

    Meera, V; Jijina, Farah; Shrikande, Mitu; Madkaikar, Manisha; Ghosh, K

    2008-10-01

    Imatinib is a tyrosine kinase inhibitor and is now used regularly in chronic myeloid leukaemia therapy in chronic phase with great success. This drug due its very nature of action is suspected to be teratogenic hence the patients are counseled not to get pregnant while on this drug. However in world literature few normal pregnancies have been reported in patients on Imatinib therapy, though no twin pregnancy has been reported on this medication. We report here the birth of normal mono-ovular mono-chorionic twin while the patient is on imatinib during conception and early pregnancy for chronic myeloid leukaemia.

  15. Twin methodology in epigenetic studies.

    Science.gov (United States)

    Tan, Qihua; Christiansen, Lene; von Bornemann Hjelmborg, Jacob; Christensen, Kaare

    2015-01-01

    Since the final decades of the last century, twin studies have made a remarkable contribution to the genetics of human complex traits and diseases. With the recent rapid development in modern biotechnology of high-throughput genetic and genomic analyses, twin modelling is expanding from analysis of diseases to molecular phenotypes in functional genomics especially in epigenetics, a thriving field of research that concerns the environmental regulation of gene expression through DNA methylation, histone modification, microRNA and long non-coding RNA expression, etc. The application of the twin method to molecular phenotypes offers new opportunities to study the genetic (nature) and environmental (nurture) contributions to epigenetic regulation of gene activity during developmental, ageing and disease processes. Besides the classical twin model, the case co-twin design using identical twins discordant for a trait or disease is becoming a popular and powerful design for epigenome-wide association study in linking environmental exposure to differential epigenetic regulation and to disease status while controlling for individual genetic make-up. It can be expected that novel uses of twin methods in epigenetic studies are going to help with efficiently unravelling the genetic and environmental basis of epigenomics in human complex diseases.

  16. Testing for neuropsychological endophenotypes in siblings discordant for attention-deficit/hyperactivity disorder.

    Science.gov (United States)

    Bidwell, L Cinnamon; Willcutt, Erik G; Defries, John C; Pennington, Bruce F

    2007-11-01

    Neurocognitive deficits associated with attention-deficit/hyperactivity disorder (ADHD) might be useful intermediate endophenotypes for determining specific genetic pathways that contribute to ADHD. This study administered 17 measures from prominent neuropsychological theories of ADHD (executive function, processing speed, arousal regulation and, motivation/delay aversion) in dizygotic (DZ) twin pairs discordant for ADHD and control twin pairs (ages 8-18 years) to compare performance between twins affected with ADHD (n = 266), their unaffected co-twins (n = 228), and control children from twin pairs without ADHD or learning difficulties (n = 332). The ADHD subjects show significant impairment on executive function, processing speed, and response variability measures compared with control subjects. Unaffected co-twins of ADHD subjects are significantly impaired on nearly all the same measures as their ADHD siblings, even when subclinical symptoms of ADHD are controlled. Executive function, processing speed, and response variability deficits might be useful endophenotypes for genetic studies of ADHD.

  17. MRI findings in multifetal pregnancies complicated by twin reversed arterial perfusion sequence (TRAP)

    Energy Technology Data Exchange (ETDEWEB)

    Guimaraes, Carolina V.A.; Kline-Fath, Beth M.; Linam, Leann E.; Calvo Garcia, Maria A.; Rubio, Eva I. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Lim, Foong-Yen [Cincinnati Children' s Hospital Medical Center, Division of Pediatric Surgery, Cincinnati, OH (United States)

    2011-06-15

    Twin reversed arterial perfusion sequence (TRAP) is a rare complication in multifetal monochorionic pregnancies in which a normal ''pump'' twin provides circulation to an abnormal acardiac co-twin, resulting in high-output cardiac dysfunction in the pump twin. To define fetal MRI findings of TRAP sequence. Fetal MR images were retrospectively reviewed in 35 pregnancies complicated by TRAP sequence. Abnormalities of the pump twin, acardiac twin, umbilical cord, placenta and amniotic fluid were reviewed. Acardiac twins were classified as: acephalus (51%), anceps (40%), amorphus (9%), acormus (0%). Common findings in acardiac twins include subcutaneous edema (77%), absent cardiac structures (86%), absent or abnormal thoracic cavity (100%), abnormal abdominal organs (100%), superior limbs absent (46%) or abnormal (51%), and inferior limbs present but abnormal (83%). There were pump twin findings of cardiac dysfunction in 43% and intracranial ischemic changes in 3%. Umbilical cord anomalies were present in 97%. Acardiac twins present with a predictable pattern of malformation with poorly developed superior structures, more normally formed inferior structures and absent or rudimentary heart. Although usually absent, abnormal heart structures can be seen and do not exclude TRAP sequence. Pump twins are commonly normal with exception of findings of cardiac dysfunction and possible brain ischemia. (orig.)

  18. Methylation matters? Decreased methylation status of genomic DNA in the blood of schizophrenic twins.

    Science.gov (United States)

    Bönsch, Dominikus; Wunschel, Michael; Lenz, Bernd; Janssen, Gesa; Weisbrod, Matthias; Sauer, Heinrich

    2012-08-15

    Studies of schizophrenia inheritance in identical twins show a concordance of about 50%, which supports an epigenetic model. In our present study we investigated methylation of genomic DNA and promoter methylation of Reelin and SOX10 genes in peripheral blood of twins suffering from schizophrenia. Global DNA methylation was reduced (52.3%) in schizophrenic twins if compared with healthy control twins (65.7%). The reduced methylation was significant in males only. We also found a similar hypomethylation in the non-affected twins of discordant pairs and a mixed group of psychiatric controls. In discordant twins there was a relative hypermethylation of the SOX10 promoter. Within-pair-difference of methylation of Reelin promoter was significantly lower in monozygotic twins than in dizygotic twins.

  19. Profile of asymmetrical retinopathy of prematurity in twins

    Directory of Open Access Journals (Sweden)

    Azad Rajvardhan

    2010-01-01

    Full Text Available Background: In twin births, both babies have the same gestational age and pre-natal conditions. However, twins may develop a varied retinopathy of prematurity (ROP course depending on birth weight and other systemic factors. Objective: To study the profile of asymmetric ROP in twins Design: Retrospective study Setting: Tertiary ROP referral eye hospital. Materials and Methods: The profile of 56 pairs of twins with ROP were studied and analyzed for differences in zone or need for treatment, while studying possible causes for the varied outcome. Results: In 45 pairs of twins (80% the disease progressed identically in both eyes, while in 11 pairs (20% the ROP showed differences in zone or need for treatment. Four of these pairs were discordant. In 3 of these 4 pairs, the heavier birth weight twin had a more severe ROP course. Conclusions: Twins can present with asymmetric ROP course, and it is therefore essential to examine both twins as per screening protocols.

  20. Operational interpretations of quantum discord

    CERN Document Server

    Cavalcanti, D; Boixo, S; Modi, K; Piani, M; Winter, A

    2010-01-01

    Quantum discord is a quantifier of non-classical correlations that goes beyond the standard classification of quantum states into entangled and unentangled ones. Although it has received considerable attention, it still lacks any precise interpretation in terms of some protocol in which quantum features are relevant. Here we give quantum discord its first operational meaning in terms on consumption of entanglement in an extended quantum state merging protocol. We go on to show that the asymmetry of quantum discord is related to the performance imbalance in quantum state merging and dense coding.

  1. Quantum Games and Quantum Discord

    CERN Document Server

    Nawaz, Ahmad

    2010-01-01

    We quantize prisoners dilemma and chicken game by our generalized quantization scheme to explore the role of quantum discord in quantum games. In order to establish this connection we use Werner-like state as an initial state of the game. In this quantization scheme measurement can be performed in entangled as well as in product basis. For the measurement in entangled basis the dilemma in both the games can be resolved by separable states with non-zero quantum discord. Similarly for product basis measurement the payoffs are quantum mechanical only for nonzero values of quantum discord.

  2. 射频消融减胎技术治疗34例单绒毛膜性双胎妊娠并发症的妊娠结局%Perinatal outcomes following selective feticide by radiofrequency ablation in complex monochorionic ;pregnancies

    Institute of Scientific and Technical Information of China (English)

    孙路明; 周奋翮; 邹刚; 杨颖俊; 周艳; 孙琦; 段涛

    2014-01-01

    antenatal magnetic resonance imaging (MRI) four weeks after the procedure and no abnormal development of nervous system in the surviving neonates between 3 months old and 1.5 years old. (3) Factors affecting fetal survival rate :There were no significant differences identified in the rate of fetal severe anemia and fetal demise (2/15, 2/13 and 1/6), the rate of PROM before 28 weeks (1/15, 4/13 and 1/6) and survival rate of 28 days after birth (13/15, 10/13 and 4/6)among three groups with different gestational age (16+1-, 20- and 24-27+6 weeks) for RFA(all P>0.05). The indications for RFA included severe selective intrauterine growth restriction (50%, 17/34), discordant for fetal abnormalities(24%, 8/34) , twin reversed arterial perfusion sequence(18%, 6/34)and dichorionic or monochorionic triamniotic pregnancy (9%, 3/34). There were also no significant differences noted in the rate of fetal complications and fetal demise(3/17, 2/8, 0/6, 0/3), the rate of PROM before 28 weeks (3/17, 0/8, 2/6, 1/3)and survival rate of 28 days after birth among different groups (12/17, 6/8, 6/6, 3/3) with different indications for RFA(all P>0.05) . No significant differences observed in the rate of fetal complications and fetal demise(10% and 2/5)and the rate of PROM before 28 weeks (17%and 2/5)between two groups with different cycle numbers for RFA (0.05)。手术指征为严重的选择性胎儿生长受限(50%,17/34)、单绒毛膜性双胎合并一胎结构异常(24%,8/34)、双胎反向动脉灌注序列(18%,6/34)和双绒毛膜性三羊膜囊三胎(9%,3/34),不同手术指征组保留胎儿严重贫血或胎死宫内发生率(3/17、2/8、0/6与0/3)、妊娠28周前胎膜早破发生率(3/17、0/8、2/6与1/3)及保留胎儿出生后28 d存活率(12/17、6/8、6/6与3/3)比较,差异均无统计学意义(P值均>0.05)。手术所需循环次数0.05)。循环次数≥3次组保留胎儿出生后28 d的存活率低于循环次数<3次组(2

  3. Causal direction between respiratory syncytial virus bronchiolitis and asthma studied in monozygotic twins

    DEFF Research Database (Denmark)

    Poorisrisak, Porntiva; Halkjaer, Liselotte Brydensholt; Thomsen, Simon Francis

    2010-01-01

    Respiratory syncytial virus (RSV) bronchiolitis has been associated with later development of asthma, wheezing, abnormal pulmonary function, and sensitization. Our aim was to determine the differential effect within monozygotic (MZ) twin pairs discordant for severe RSV bronchiolitis in infancy...

  4. Twin births

    DEFF Research Database (Denmark)

    Hoffmann, Elise; Oldenburg, Anna; Rode, Line;

    2012-01-01

    To assess morbidity and mortality in twin pregnancy deliveries, according to chorionicity and mode of delivery.......To assess morbidity and mortality in twin pregnancy deliveries, according to chorionicity and mode of delivery....

  5. Lessons from BWS twins: Complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

    NARCIS (Netherlands)

    J. Bliek (Jet); M. Alders (Mariëlle); S.M. Maas (Saskia); R.J. Oostra; D.M. Mackay (Deborah); K. van der Lip (Karin); J.L. Callaway (Johnatan); A.S. Brooks (Alice); S. van't Padje (Sandra); A. Westerveld (Andries); N.J. Leschot (Nico); M.M.A.M. Mannens (Marcel)

    2009-01-01

    textabstractThe Beckwith-Wiedemann syndrome (BWS) is a growth disorder for which an increased frequency of monozygotic (MZ) twinning has been reported. With few exceptions, these twins are discordant for BWS and for females. Here, we describe the molecular and phenotypic analysis of 12 BWS twins and

  6. Decreased Brain and Placental Perfusion in Omphalopagus Conjoined Twins on Fetal MRI

    Directory of Open Access Journals (Sweden)

    Sureyya Burcu Gorkem

    2016-01-01

    Full Text Available The aim of this study is to evaluate perfusional changes in brain and placenta of omphalopagus conjoined twins and to compare them with singleton fetuses by using diffusion weighted imaging and apparent diffusion coefficient. Fetal MRIs of 28-week-old omphalopagus conjoined twins with a shared liver with two separate gallbladders and portal and hepatic venous systems and three singleton fetuses with unilateral borderline ventriculomegaly at the same gestational week as control group were enrolled retrospectively. There was a significant decrease in ADC values of brain regions (p=0.018 and placenta (p=0.005 of conjoined twins compared to the control group. The decreased ADC values in placenta and brain regions in conjoined twins might be due to decreased placental perfusion compared to singleton pregnancy. Our results would be a keystone for future studies which will compare larger group of monochorionic multiple pregnancies with singleton pregnancies.

  7. Monozygotic Triplets and Dizygotic Twins following Transfer of Three Poor-Quality Cleavage Stage Embryos

    Directory of Open Access Journals (Sweden)

    Reshef Tal

    2012-01-01

    Full Text Available Background. Assisted reproductive technology has been linked to the increased incidence of monozygotic twinning. It is of clinical importance due to the increased risk of complications in multiple pregnancies in general and in monozygotic twins in particular. Case. A 29-year-old female, nulligravida underwent her first IVF cycle. Three poor-quality cleavage stage embryos were transferred resulting in monochorionic triamniotic triplets and dichorionic diamniotic twins. Selective embryo reduction was performed at 12 weeks leaving dichorionic twins. The patient underwent emergency cesarean section due to preterm labor and nonreassuring fetal heart tracing at 30 weeks of gestation. Conclusion. Our case emphasizes that even embryos with significant morphological abnormalities should be considered viable and the possibility of simultaneous spontaneous embryo splitting must be factored into determining number of embryos to transfer.

  8. Metabolismo de glicose em gêmeos monozigóticos discordantes para aptidão cardiorrespiratória Metabolismo de glucosa en gemelos monocigóticos discordantes para aptitud cardiorrespiratoria Glucose metabolism in discordant monozygotic twins for cardiorespiratory fitness

    Directory of Open Access Journals (Sweden)

    Marcos Roberto Queiroga

    2013-03-01

    L.kg-1.min-1 y fueron divididos en dos grupos, de alta y baja aptitud. Los grupos fueron comparados a partir de la prueba pareada de Wilcoxon, teniendo en vista la asimetría de los datos. RESULTADOS: En promedio, los gemelos del grupo de alta aptitud presentaron consumo máximo de oxígeno el 17% superior (13,5±3,7mL.kg-1.min-1 a sus hermanos menos aptos. No hubo diferencia entre los grupos para las concentraciones de insulina (36,5±34,6 versus 25,3±13,7mg/dL; pOBJECTIVE: To determine if glucose and insulin concentrations are regulated by cardiorespiratory fitness (VO2max regardless of their genetic effects. METHODS: This cross-sectional study enrolled 38 pairs of young monozygotic twins (11 to 18 years-old. All subjects underwent a progressive maximal exercise test on a treadmill to determine the VO2max with gas exchange analysis (MedGraphics VO2000® - Medical Graphics Corp., St. Paul, MN. Blood samples were drawn after fasting to determine glucose and insulin levels. Monozygosity was confirmed by genotyping 15 informative genetic markers. Nine pairs had at least 10mL.kg-1.min-1 difference in VO2max and were divided into the more and less active group, according to their VO2max. Mean differences between more and less active groups were evaluated by Wilcoxon's test for paired data. RESULTS: On average, twins from the more active group presented a 17% (13.5±3.7mL.kg-1.min-1 higher VO2max compared to their less active siblings. No significant differences were observed between the groups for fasting insulin (36.5±34.6 versus 25.3±13.7mg/dL; p<0.813. However, the more active twins had lower fasting glucose than the less active ones (82.9±7.3 versus 86.7±7.6mg/dL; p<0.010. CONCLUSIONS: In this case-control study (discordant monozygotic twins, the less active co-twins were characterized by higher fasting plasma glucose levels. This implies that poor cardiorespiratory fitness can be associated with defective glucose metabolism regardless of genetic factors.

  9. Birth weight discordance and perinatal mortality among triplets

    Directory of Open Access Journals (Sweden)

    Egić Amira

    2005-01-01

    Full Text Available INTRODUCTION. The incidence of multiple births has increased in the last decade. Perinatal mortality in triplets is significantly greater than in twin and singleton births. OBJECTIVE. The objective of this study was to describe the extent of birth weight discordance among triplets and to identify its association with an increased risk of perinatal mortality. METHOD A retrospective analysis of triplet births, for the period 1993-2003, was conducted at the Gynaecological-Obstetric Clinic "Narodni Front" in Belgrade. Birth weight discordance was defined as the difference in birth weight between the largest and the smallest triplet's weight of more than 20%. RESULTS. The rate of triplets has increased by almost 75% between the first (7.7% and the last (29.6% 5-year period of the last decade. Triplets are becoming more common because of the frequent use of assisted reproductive technology as a treatment for infertility. In the period 1993-2003, there were a total of 40 triplet live births (24 weeks and greater with incidence of 0.06%. There was no clear association between maternal age, parity, method of conception, birth gestational age, and disorders complicating pregnancy with birth discordance more than 20%. Regarding birth weight groups, statistical significance occurred only in the <999 grams group for discordant and in the 2000-2499 grams group for concordant triplets. Overall, the perinatal mortality rate in the group was 10.8%, the foetal mortality rate was 1.7% (2/120, and the neonatal (0-28 days mortality rate was 9.1% (11/120. An odds ratio of 95% confidence interval shows 3 times greater risk for adverse perinatal outcome in the discordant group. However, the difference was not significant. CONCLUSION. Increasing birth weight discordance may increase the risk of adverse perinatal outcome. Triplet pregnancies, being high risk, require intensive antenatal care in order to prevent preterm delivery and ultrasound in order to diagnose foetal

  10. How Do Friends Influence Smoking Uptake? Findings from Qualitative Interviews with Identical Twins

    Science.gov (United States)

    McLeod, Kim; White, Victoria; Mullins, Robyn; Davey, Claire; Wakefield, Melanie; Hill, David

    2008-01-01

    The smoking behavior of friends is a major risk factor for adolescent smoking uptake. To explore the social context of smoking experimentation and consolidation with a particular focus on friends, the authors interviewed both members of 14 young adult identical twin pairs who were discordant for smoking. The different smoking status of twins was…

  11. How Do Friends Influence Smoking Uptake? Findings from Qualitative Interviews with Identical Twins

    Science.gov (United States)

    McLeod, Kim; White, Victoria; Mullins, Robyn; Davey, Claire; Wakefield, Melanie; Hill, David

    2008-01-01

    The smoking behavior of friends is a major risk factor for adolescent smoking uptake. To explore the social context of smoking experimentation and consolidation with a particular focus on friends, the authors interviewed both members of 14 young adult identical twin pairs who were discordant for smoking. The different smoking status of twins was…

  12. Twin pregnancy

    DEFF Research Database (Denmark)

    Sperling, Lene; Tabor, A

    2001-01-01

    Determination of chorionicity is one of the most important issues in the management of twin pregnancy. Modern ultrasound equipment has made it possible to accurately assess placentation already in the first trimester with the lambda sign. With regard to prenatal diagnosis, it is important to know...... for clinicians caring for twin pregnancies....

  13. Risk factors for asthma in young adults: a co-twin control study

    DEFF Research Database (Denmark)

    Thomsen, S F; Ulrik, C S; Kyvik, K O;

    2006-01-01

    BACKGROUND: The liability to asthma is influenced both by genetic and environmental factors. The objective of this study was to identify risk factors for asthma in young adult twin pairs during an 8-year period. METHODS: From the birth cohorts 1953-1982 of the Danish Twin Registry, 6,090 twin pairs...... who were initially unaffected with respect to asthma at a nationwide questionnaire-based study in 1994 participated in a similar follow-up study in 2002. Subjects were regarded incident asthma cases when responding affirmatively to the question 'Do you have, or have you ever had asthma'? in 2002....... Pairs in which only one twin developed asthma -- discordant pairs -- were identified and conditional logistic regression was applied to detect effects of risk factors. RESULTS: A total of 126 monozygotic (MZ) and 273 dizygotic (DZ) discordant twin pairs were identified. In MZ twins hay fever (OR = 3...

  14. Twins with omphalocele in Denmark (1970-1989)

    DEFF Research Database (Denmark)

    Bugge, Merete

    2010-01-01

    Seven pairs of twins, two monozygotic (MZ), two dizygotic (DZ), and three like-sex pairs of unknown zygosity are described. The twin pairs were all discordant for omphalocele except for one pair of conjoined twins. The 8 infants with omphalocele represent 3.1% of the 253 infants with omphalocele......, ascertained in an almost complete nationwide data set of live- and stillborn infants with abdominal wall defects in two decades in Denmark (1970-1989). The occurrence of twins with omphalocele was not significantly different from the occurrence of twins in the Danish population in the same period. To our...... knowledge this is the first report of the occurrence of twins with omphalocele in a systematic nationwide epidemiological study....

  15. DNA stability and schizophrenia in twins.

    Science.gov (United States)

    Nguyen, Giang H; Bouchard, Joseph; Boselli, Monica G; Tolstoi, Linda G; Keith, Louis; Baldwin, Clinton; Nguyen, Nam C; Schultz, Mark; Herrera, Victoria L M; Smith, Cassandra L

    2003-07-01

    The goal of these experiments was to understand DNA changes relevant to schizophrenia. This work compared DNA of monozygotic (MZ) twins surrounding (CAG)(n) repeating sequences, and characterized the relationship between fragile sites and schizophrenia. Twelve twin-pairs, previously classified as MZ and 18 unrelated sib-pairs, from seven families were studied. Eight twin-pairs were affected by schizophrenia, four concordantly and four discordantly. DNA comparisons were made using profiles of electrophoretic size fractionations of PCR amplified (CAG)(n) containing genomic fragments. These profiles were generated by a new method, developed by us, called targeted genomic differential display (TGDD). Surprisingly, the number of peak profile differences in MZ twin-pairs discordant for schizophrenia was greater than the concordantly ill twins and the well twins and, in some cases, overlapped the range of sib-pairs. These results might mean that some twins were not MZ but it was not possible to definitively test these samples for zygosity. Alternatively, the results might be explained as an increased mutation rate (or genomic instability) around (CAG)(n) sites in individuals afflicted with schizophrenia. Also, we uncovered an association of schizophrenia (i.e., a linkage of chromosomal abnormalities and gene localizations) with fragile sites spread throughout the genome (chi(2), P = 0.001). Furthermore, it appears that an increasing number of genes linked to schizophrenia are associated with (CAG)(n) sequences. Fragile sites and (CAG)(n) repeat sequences are known to be unstable. We speculate the association of genomic instability with schizophrenia accounts for seemingly disparate biological and environmental factors that influence disease occurrence. Copyright 2003 Wiley-Liss, Inc.

  16. The season of birth of schizophrenic, neurotic and psychiatrically normal twins.

    Science.gov (United States)

    Kendler, K S

    1982-08-01

    The quarter of birth of 536 schizophrenic, 1,991 neurotic and 12,085 psychiatrically normal twin pairs from the National Academy of Sciences-National Research Council Twin Registry was compared. When either all twin pairs, or only monozygotic or dizygotic twin pairs, were considered, no significant differences were found in the quarter of birth between the 3 groups. No difference in quarter of birth was found for twin pairs concordant versus discordant for schizophrenia. Despite the increased risk for intrauterine and perinatal complications in twin births, schizophrenic twins appear (at least) to be no more vulnerable than schizophrenic singletons to the seasonal gestation and birth-related insults which probably underlie the seasonality in schizophrenic births. Controlling for season of birth probably has little effect on the results of twin studies of schizophrenia.

  17. Fetal blood sampling in twin pregnancies. Prenatal diagnosis and management of 19 cases.

    Science.gov (United States)

    Cox, W L; Forestier, F; Capella-Pavlovsky, M; Daffos, F

    1987-01-01

    Twin pregnancies pose particular problems in both prenatal diagnosis and obstetric management. We present 19 twin pregnancies that underwent fetal blood sampling (FBS). The indications were mostly similar to those for singleton pregnancies, with both fetuses being sampled. There was one indication specific to twin pregnancies; disseminated intravascular coagulation in the retained twin after the death-in-utero (DIU) of the other. In 5 cases, only 1 twin was sampled; in 2 because the second twin was female in the diagnosis of an X-linked disorder; in 1 because of technical failure, and in 2 the other twin had predeceased. Eight pregnancies continued after the FBS delivering 2 live, healthy infants, though 5 were delivered before 37 weeks of gestation. In 7 cases there was a discordance in the diagnosis between the twins. In 3 of these cases the affected fetus underwent selective termination by air embolism; in 2 cases the pregnancies were continued and the affected twin not resuscitated; 1 pregnancy is still in progress, and 1 patient had a non-medically supervised termination of both twins in another country. Two patients miscarried within a week of the FBS. Two patients had only 1 living twin at the time of FBS; 1 had a second DIU a month after the FBS and the other a neonatal death at 11 days of age in an infant with severe porencephaly. FBS is technically feasible for similar indications as for singleton pregnancies though discordance in diagnosis raises specific management problems.

  18. Operational Significance of Discord: Theory and Experiment

    CERN Document Server

    Gu, Mile; Assad, Syed M; Symul, Thomas; Modi, Kavan; Ralph, Timothy C; Vedral, Vlatko; Lam, Ping Koy

    2012-01-01

    Observations that coherent interactions between non-entangled systems can still exhibit unique quantum behaviour challenged the traditional view that quantum correlations are synonymous with entanglement. In response, quantum discord was proposed to complete the description of all quantum correlations. Nevertheless, explicit protocols that directly exploit discord as a quantum resource have remained elusive. Here, we demonstrate that under certain measurement constraints, discord between bipartite systems directly quantifies a quantum resource that coherent interactions can harness. The inability to access this resource by any other means allows us to use discord to directly quantify this `quantum advantage'. We experimentally encode information within the discordant correlations of two separable Gaussian states. The amount of extra information recovered by coherent interaction is quantified and directly linked with the discord between the states. No entanglement exists at any point of this experiment. Thus w...

  19. Homodyne estimation of Gaussian quantum discord.

    Science.gov (United States)

    Blandino, Rémi; Genoni, Marco G; Etesse, Jean; Barbieri, Marco; Paris, Matteo G A; Grangier, Philippe; Tualle-Brouri, Rosa

    2012-11-02

    We address the experimental estimation of Gaussian quantum discord for a two-mode squeezed thermal state, and demonstrate a measurement scheme based on a pair of homodyne detectors assisted by Bayesian analysis, which provides nearly optimal estimation for small value of discord. In addition, though homodyne detection is not optimal for Gaussian discord, the noise ratio to the ultimate quantum limit, as dictated by the quantum Cramer-Rao bound, is limited to about 10 dB.

  20. Interpreting Quantum Discord in Quantum Metrology

    OpenAIRE

    Girolami, Davide

    2015-01-01

    Multipartite quantum systems show properties which do not admit a classical explanation. In particular, even nonentangled states can enjoy a kind of quantum correlations called quantum discord. I discuss some recent results on the role of quantum discord in metrology. Given an interferometric phase estimation protocol where the Hamiltonian is initially unknown to the experimentalist, the quantum discord of the probe state quantifies the minimum precision of the estimation. This provides a phy...

  1. Quantum Discord of Non-X State

    Institute of Scientific and Technical Information of China (English)

    YAO Jing-Ying; DONG Yu-Li; ZHU Shi-Qun

    2013-01-01

    The level surfaces of quantum discord for a class of two-qubit states are investigated when the Bloch vectors (r) and (s) are perpendicularly oriented.The geometric objects of tetrahedron T and octahedron O are deformed.The level surfaces of constant discord are formed by three interaction “tubes” along three orthogonal directions.They shrink to the center when the Bloch vectors are increased and are expanded and cut off by the state tetrahedron T when the quantum discord is increased.In the phase damping channel,the quantum discord keeps approximately a constant when the time increases.

  2. Epigenetic differences arise during the lifetime of monozygotic twins

    Science.gov (United States)

    Fraga, Mario F.; Ballestar, Esteban; Paz, Maria F.; Ropero, Santiago; Setien, Fernando; Ballestar, Maria L.; Heine-Suñer, Damia; Cigudosa, Juan C.; Urioste, Miguel; Benitez, Javier; Boix-Chornet, Manuel; Sanchez-Aguilera, Abel; Ling, Charlotte; Carlsson, Emma; Poulsen, Pernille; Vaag, Allan; Stephan, Zarko; Spector, Tim D.; Wu, Yue-Zhong; Plass, Christoph; Esteller, Manel

    2005-01-01

    Monozygous twins share a common genotype. However, most monozygotic twin pairs are not identical; several types of phenotypic discordance may be observed, such as differences in susceptibilities to disease and a wide range of anthropomorphic features. There are several possible explanations for these observations, but one is the existence of epigenetic differences. To address this issue, we examined the global and locus-specific differences in DNA methylation and histone acetylation of a large cohort of monozygotic twins. We found that, although twins are epigenetically indistinguishable during the early years of life, older monozygous twins exhibited remarkable differences in their overall content and genomic distribution of 5-methylcytosine DNA and histone acetylation, affecting their gene-expression portrait. These findings indicate how an appreciation of epigenetics is missing from our understanding of how different phenotypes can be originated from the same genotype. PMID:16009939

  3. Genetic susceptibility to bilateral tinnitus in a Swedish twin cohort

    DEFF Research Database (Denmark)

    Maas, Iris Lianne; Brüggemann, Petra; Requena, Teresa

    2017-01-01

    PURPOSE: Genetic contributions to tinnitus have been difficult to determine due to the heterogeneity of the condition and its broad etiology. Here, we evaluated the genetic and nongenetic influences on self-reported tinnitus from the Swedish Twin Registry (STR). METHODS: Cross-sectional data from...... the STR was obtained. Casewise concordance rates (the risk of one twin being affected given that his/her twin partner has tinnitus) were compared for monozygotic (MZ) and dizygotic (DZ) twin pairs (N = 10,464 concordant and discordant twin pairs) and heritability coefficients (the proportion of the total...... variance attributable to genetic factors) were calculated using biometrical model fitting procedures. RESULTS: Stratification of tinnitus cases into subtypes according to laterality (unilateral versus bilateral) revealed that heritability of bilateral tinnitus was 0.56; however, it was 0.27 for unilateral...

  4. Twin Baryogenesis

    CERN Document Server

    Farina, Marco; Shin, Chang Sub

    2016-01-01

    In the context of Twin Higgs models, we study a simple mechanism that simultaneously generates asymmetries in the dark and visible sector through the out-of-equilibrium decay of a TeV scale particle charged under a combination of baryon and twin baryon number. We predict the dark matter to be a 5 GeV twin baryon, which is easy to achieve because of the similarity between the two confinement scales. Dark matter is metastable and can decay to three quarks, yielding indirect detection signatures. The mechanism requires the introduction of a new colored particle, typically within the reach of the LHC, of which we study the rich collider phenomenology, including prompt and displaced dijets, multi-jets, monojets and monotops.

  5. Monoamniotic twins with one fetal anencephaly and cord entanglement diagnosed with three dimensional ultrasound at 14 weeks of gestation.

    Science.gov (United States)

    Jo, Yun Sung; Son, Hyun Joo; Jang, Dong Gyu; Kim, Narinay; Lee, Guisera

    2011-01-01

    A 29-year-old pregnant woman with parity 0-0-0-0 was diagnosed with monoamniotic twin pregnancy discordant for anencephaly at 14 weeks gestation. Umbilical cord entanglement, which is an important cause of fetal death in monoamniotic twins, was confirmed by three-dimensional ultrasound. Cesarean section was performed at 34 weeks of gestation, and the normal newborn infant was discharged without any complications. We report a case of monoamniotic twin pregnancy discordant for anencephaly and diagnosed with cord entanglement by three-dimensional ultrasound at 14 weeks of gestation, and now report it along with a literature review.

  6. Monoamniotic Twins with One Fetal Anencephaly and Cord Entanglement Diagnosed with Three Dimensional Ultrasound at 14 Weeks of Gestation

    Directory of Open Access Journals (Sweden)

    Yun Sung Jo, Hyun Joo Son, Dong Gyu Jang, Narinay Kim, Guisera Lee

    2011-01-01

    Full Text Available A 29-year-old pregnant woman with parity 0-0-0-0 was diagnosed with monoamniotic twin pregnancy discordant for anencephaly at 14 weeks gestation. Umbilical cord entanglement, which is an important cause of fetal death in monoamniotic twins, was confirmed by three-dimensional ultrasound. Cesarean section was performed at 34 weeks of gestation, and the normal newborn infant was discharged without any complications. We report a case of monoamniotic twin pregnancy discordant for anencephaly and diagnosed with cord entanglement by three-dimensional ultrasound at 14 weeks of gestation, and now report it along with a literature review.

  7. Application progress of prenatal ultrasound in twin-twin transfusion syndrome%产前超声检查在双胎输血综合征中的应用进展

    Institute of Scientific and Technical Information of China (English)

    蒋瑜; 杨太珠

    2012-01-01

    Twin-twin transfusion syndrome (TITS) is a potentially seriouscomplication of monochorionic twin pregnancies, with high incidence and poor prognosis. As the main means of prenatal examination, ultrasonography is useful for early detection, diagnosis and treatment of TITS and it can improves the quality of life of perinatal infante- This article reviews the application progress of prenatal ultrasound in TITS.%双胎输血综合症(TTTS)是单绒毛膜双胎的一种严重并发症,其发病率较高,预后较差.超声作为产前检查的主要手段,能够早期发现、诊断,并及时治疗,从而提高围产儿的生存质量,本文就产前超声检查在TTTS的应用进展做一综述.

  8. Evidence for No Significant Impact of Müllerian Anomalies on Reproductive Outcomes of Twin Pregnancy in Korean Women.

    Science.gov (United States)

    Shim, Sohyun; Hur, Yoon-Mi; Kim, Da Hee; Seong, Seok Ju; Kim, Mi-La; Shin, Joong Sik

    2016-04-01

    The present article aimed to evaluate the impact of congenital Müllerian anomalies (MA) on twin pregnancy after 24 gestational weeks in Korean women. All records of twin pregnancies in a large maternity hospital in Korea between January 2005 and July 2013 were analyzed. Patients with monochorionic monoamniotic (MCMA) twins, non-Korean patients, patients with twins delivered prior to 24 gestational weeks, and patients with miscarriage of one fetus or intrauterine fetal death (IUFD) before 24 gestational weeks were excluded from data analysis. In total, 1,422 women with twin pregnancy were eligible for data analysis, including 17 (1.2%) who had a known congenital MA (septate uterus, bicornuate uterus, arcuate uterus, and unicornuate uterus). Except for the mode of conception, baseline demographics were similar between women with MA and those without MA. No significant differences were found in pregnancy outcomes of gestational age at delivery (p = .86), birth weight of smaller and larger twins (p = .54 and p = .65), and number of twins with birth weight <5th percentile for gestational age (p = .43).The rates of obstetrical complications such as pre-eclampsia, gestational diabetes mellitus (GDM), placenta previa, cerclage, IUFD, and postpartum hemorrhage were not significantly different between the two groups either. We concluded that the presence of congenital MA may not increase obstetrical risks in outcomes of pregnancy of twins delivered after 24 gestational weeks.

  9. 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

    increased the detection rate for fetal trisomy 21 in dizygotic twin pregnancies from 78 to 90%, and decreased the false-positive rate from 8.0 to 5.9%. CONCLUSION: Generation of chorionicity-specific medians for the biochemical markers and their use in risk assessment can improve the performance of first...... 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......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...

  10. Quantum discord in spin-cluster materials

    CERN Document Server

    Yurischev, M A

    2011-01-01

    The total quantum correlation (discord) in Heisenberg dimers is expressed via the spin-spin correlation function, internal energy, specific heat or magnetic susceptibility. This allows one to indirectly measure the discord through neutron scattering, as well as calorimetric or magnetometric experiments. Using the available experimental data, we found the discord for a number of binuclear Heisenberg substances with both antiferro- and ferromagnetic interactions. For the dimerized antiferromagnet copper nitrate Cu(NO_3)_2*2.5H_2O, the three independent experimental methods named above lead to a discord of approximately 0.2-0.3 bit/dimer at a temperature of 4 K. We also determined the temperature behavior of discord for hydrated and anhydrous copper acetates, as well as for the ferromagnetic binuclear copper acetate complex [Cu_2L(OAc)]*6H_2O, where L is a ligand.

  11. Role of quantum discord in quantum communication

    CERN Document Server

    Madhok, Vaibhav

    2011-01-01

    Positivity of quantum discord is shown to be equivalent to the strong sub additivity of the Von-Nuemann entropy. This leads to a connection between the mother protocol of quantum information theory [A. Abeyesinghe, I. Devetak, P. Hayden, and A. Winter, Proc. R. Soc. A 465, 2537, (2009)] and quantum discord. We exploit this to show that quantum discord is a measure coherence in the performance of the mother protocol. Since the mother protocol is a unification of an important class of problems (those that are bipartite, unidirectional and memoryless), we show quantum discord to be a measure of coherence in these protocols. Our work generalizes an earlier operational interpretation of quantum discord provided in terms of quantum state merging [V. Madhok and A. Datta, Phys. Rev. A 83, 032323, (2011)].

  12. Angiographic studies of atrioventricular discordance.

    Science.gov (United States)

    Attie, F; Soni, J; Ovseyevitz, J; Muñoz-Castellanos, L; Testelli, M R; Buendia, A

    1980-08-01

    The results and value of conventional and axial angiocardiography were studied in 26 cases of atrioventricular discordance (AVD). The angiographic anatomy of this malformation was analyzed to determine the precise characteristics of atrioventricular and ventriculoarterial connections. The left and right ventricles in atrial situs solitus and levocardia show angiographic features that differ from those seen in atrial situs solitus and dextrocardia. The same differences are found in atrial situs inversus. Regardless of the type of ventriculoarterial connections, the ventricles maintain the same angiographic characteristics. The ventricular septum in AVD in situs solitus and levocardia and situs inversus and dextrocardia has a peculiar orientation. The use of axial angiocardiography facilitates detection and localization of the ventricular septal defect. In cases of malposition of the heart, the conventional frontal view allows visualization of the ventricular septum in all of its length. The axial projection is useful in diagnosing left ventricular outflow tract obstruction.

  13. Danish cohort of monozygotic inflammatory bowel disease twins: Clinical characteristics and inflammatory activity

    Science.gov (United States)

    Moller, Frederik Trier; Knudsen, Lina; Harbord, Marcus; Satsangi, Jack; Gordon, Hannah; Christiansen, Lene; Christensen, Kaare; Jess, Tine; Andersen, Vibeke

    2016-01-01

    AIM: To describe the establishment of a Danish inflammatory bowel diseases (IBD) twin cohort with focus on concordance of treatment and inflammatory markers. METHODS: We identified MZ twins, likely to be discordant or concordant for IBD, by merging information from the Danish Twin Register and the National Patient Register. The twins were asked to provide biological samples, questionnaires, and data access to patient files and public registries. Biological samples were collected via a mobile laboratory, which allowed for immediate centrifugation, fractionation, and storage of samples. The mean time from collection of samples to storage in the -80 °C mobile freezer was less than one hour. The diagnoses where validated using the Copenhagen diagnostic criteria. RESULTS: We identified 159 MZ IBD twin pairs, in a total of 62 (39%) pairs both twins agreed to participate. Of the supposed 62 IBD pairs, the IBD diagnosis could be confirmed in 54 pairs. The cohort included 10 concordant pairs, whereof some were discordant for either treatment or surgery. The 10 concordant pairs, where both pairs suffered from IBD, included eight CD/CD pairs, one UC/UC pair and one UC/IBDU pair. The discordant pairs comprised 31 UC, 5 IBDU (IBD unclassified), and 8 CD discordant pairs. In the co-twins not affected by IBD, calprotectin was above 100 μg/g in 2 participants, and above 50 μg/g in a further 5 participants. CONCLUSION: The presented IBD twin cohorts are an excellent resource for bioinformatics studies with proper adjustment for disease-associated exposures including medication and inflammatory activity in the co-twins. PMID:27275097

  14. Arterio-venous flow between monochorionic twins determined during intra-uterine transfusion. Nonlinear decay of adult red blood cells

    Energy Technology Data Exchange (ETDEWEB)

    Gemert, Martin J C van; Wijngaard, Jeroen P H M van den [Laser Centre and Department of Obstetrics, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam (Netherlands); Pasman, Suzanne A; Vandenbussche, Frank P H A [Division of Fetal Medicine, Department of Obstetrics, Leiden University Medical Centre, Leiden (Netherlands); Lopriore, Enrico [Division of Neonatology, Department of Pediatrics, Leiden University Medical Centre, Leiden (Netherlands)], E-mail: m.j.vangemert@amc.uva.nl

    2008-07-07

    Recently, we derived equations relating the flow of adult red blood cells through a placental arterio-venous anastomosis with intra-uterine and post-natal measured adult hemoglobin concentrations. In this letter, we re-derived the equations, now including a more realistic nonlinear decay of adult red blood cells, and re-evaluated the measurement accuracy of the arterio-venous flow and the lifetime of the red blood cells. (letter to the editor)

  15. Marital status and twins' health and behavior: an analysis of middle-aged Danish twins

    DEFF Research Database (Denmark)

    Osler, Merete; McGue, Matt; Lund, Rikke

    2008-01-01

    divorce with depression and smoking in Danish twins are due to the stressful effects of marital dissolution, but that marital differences in other health and behavioral outcomes are most consistent with selection effects related to genetic or rearing environmental factors....... mass index (BMI), depression symptoms, self-rated health, cognitive function, physical activity, smoking, and alcohol intake. RESULTS: Among all 2350 individual twins, men who were divorced/widowed or never married had higher depression scores, lower cognitive test scores, lower physical activity...... scores, and were also less often moderate drinkers and nonsmokers compared with married men. Divorced/widowed women had higher depression scores and those divorced/widowed or never married were more often smokers than married women. Within twin pairs discordant on marital status, the divorced...

  16. Birth size and age at menarche: a twin perspective.

    Science.gov (United States)

    Sørensen, Kaspar; Juul, Anders; Christensen, Kaare; Skytthe, Axel; Scheike, Thomas; Kold Jensen, Tina

    2013-10-01

    Do birthweight (BW) and co-twin sex influence the age at menarche in twins? BW, but not co-twin sex, was associated with age at menarche in twins. However, BW was not associated with age at menarche after controlling for genetics and shared rearing environment. Nutritional deprivation during critical developmental periods can trigger long-term effects on health. A small size at birth has been associated with early age at menarche in singletons. However, the relative influence of genetics and environmental factors on this association remains unresolved. In total, 2505 twin pairs were included in this cohort study. All participants were recruited from the Danish Twin Register. Data on the age at menarche were collected by questionnaire and combined with data on BW, birth length (BL) and gestational age (GA) from the Danish Medical Birth register. The BW for GA standard deviation score (BW-SDS) was calculated. BW-SDS [hazard ratio (HR) 0.96; 95% confidence interval (CI): 0.93-0.00], P = 0.04], but not BW, BL or GA (P ≥ 0.15), was positively associated with age at menarche in all twins after adjustment for zygosity and year of birth. However, BW-SDS was not associated with menarcheal age within twin pairs (HR 1.01; 95% CI: 0.91-1.12, P = 0.88). No differences were found in the age at menarche or birth size between twin girls from same sex and twin girls from opposite-sex pregnancies. Heritability of menarcheal age and BW were estimated to be 0.61 (95% CI: 0.38-0.84) and 0.27 (95% CI: 0.18-0.38), respectively. Both BW and menarcheal age were influenced by genetic and environmental factors. A limitation of this study is recall bias on the age at menarche. It is also not clear how these results should be extrapolated to the non-twin population. lower BW for GA is associated with earlier age at menarche in twin girls. However, the lack of within-pair differences in menarcheal age between even markedly BW-discordant twins indicates that this association is governed by

  17. One-way unlocalizable quantum discord

    Science.gov (United States)

    Xi, Zhengjun; Fan, Heng; Li, Yongming

    2012-05-01

    In this paper, we present the concept of the one-way unlocalizable quantum discord and investigate its properties. We provide a polygamy inequality for it in a tripartite pure quantum system of arbitrary dimension. Several tradeoff relations between the one-way unlocalizable quantum discord and other correlations are given. If the von Neumann measurement is made on a part of the system, we give two expressions of the one-way unlocalizable quantum discord in terms of partial distillable entanglement and quantum disturbance. Finally, we also provide a lower bound for bipartite shareability of quantum correlation beyond entanglement in a tripartite system.

  18. The one-way unlocalizable quantum discord

    CERN Document Server

    Xi, Zhengjun; Li, Yongming

    2012-01-01

    In this paper, we present the concept of the one-way unlocalizable quantum discord and investigate its properties. We provide a polygamy inequality for it in tripartite pure quantum system of arbitrary dimension. Several trade-offs between the one-way unlocalizable quantum discord and other correlations are given. If the von Neumann measurement is on a part of the system, we give two expressions of the one-way unlocalizable quantum discord in terms of partial distillable entanglement and quantum disturbance. Finally, we also provide a lower bound for bipartite shareability of quantum correlation beyond entanglement in a tripartite system.

  19. Homodyne estimation of Gaussian quantum discord

    CERN Document Server

    Blandino, Rémi; Jean, Etesse; Barbieri, Marco; Paris, Matteo G A; Grangier, Philippe; Tualle-Brouri, Rosa

    2012-01-01

    We address the experimental estimation of Gaussian quantum discord for two-mode squeezed state, and demonstrate a measurement scheme based on a pair of homodyne detectors assisted by Bayesian analysis. Our scheme provides nearly optimal estimation for small value of discord, where Bayesian analysis allows to greatly improves performances. Besides, though homodyne detection is not optimal for Gaussian discord, the noise ratio to the ultimate quantum limit is limited to about 10 dB. Our results illustrate how suitable data processing can decrease significantly the uncertainty when optimal detection schemes are not available.

  20. The timing of monozygotic twinning: a criticism of the common model.

    Science.gov (United States)

    Herranz, Gonzalo

    2015-02-01

    In the dominant model, monozygotic (MZ) twinning is universally accepted as a post-fertilization event resulting from splitting of the embryo along its first 2 weeks of development. The stage at which splitting occurs determines chorionicity and amnionicity. A short history on how the model was built is presented, stressing the role played by some embryologists, in particular George Corner, in its completion and final success. Strikingly, for more than 60 years no deep criticisms have been raised against the model, which, in virtue of its rational and plausible character, enjoys the status of undisputed truth. At close examination, the embryological support of the model shows some important weak points, particularly when dealing with late splitting. In the author's view, the model not only has contributed to 'suspend' our knowledge on the timing of MZ twinning, but seems indefensible and claims to be substituted. That factor could imply relevant consequences for embryology and bioethics. As an alternative to the model, a new theory to explain the timing of MZ twinning is proposed. It is based on two premises. First, MZ twinning would be a fertilization event. In that case, due to an alteration of the zygote-blastomere transition, the first zygotic division, instead of producing two blastomeres, generates twin zygotes. Second, monochorionicity and monoamnionicity would not depend on embryo splitting, but on fusion of membranes. Some support for this theory can be found in recent embryological advances and also in some explanations of old.

  1. Discord under the influence of a quantum phase transition

    Institute of Scientific and Technical Information of China (English)

    Wang Lin-cheng; Shen Jian; Yi Xue-Xi

    2011-01-01

    This paper studies the discord of a bipartite two-level system coupling to an XY spin-chain environment in a transverse field and investigates the relationship between the discord property and the environment's quantum phase transition. The results show that the quantum discord is also able to characterize the quantum phase transitions. We also discuss the difference between discord and entanglement, and show that quantum discord may reveal more general information than quantum entanglement for characterizing the environment's quantum phase transition.

  2. Quantum discord of states arising from graphs

    Science.gov (United States)

    Dutta, Supriyo; Adhikari, Bibhas; Banerjee, Subhashish

    2017-08-01

    Quantum discord refers to an important aspect of quantum correlations for bipartite quantum systems. In our earlier works, we have shown that corresponding to every graph (combinatorial) there are quantum states whose properties are reflected in the structure of the corresponding graph. Here, we attempt to develop a graph theoretic study of quantum discord that corresponds to a necessary and sufficient condition of zero quantum discord states which says that the blocks of density matrix corresponding to a zero quantum discord state are normal and commute with each other. These blocks have a one-to-one correspondence with some specific subgraphs of the graph which represents the quantum state. We obtain a number of graph theoretic properties representing normality and commutativity of a set of matrices which are indeed arising from the given graph. Utilizing these properties, we define graph theoretic measures for normality and commutativity that results in a formulation of graph theoretic quantum discord. We identify classes of quantum states with zero discord using the developed formulation.

  3. Heredity and environment in schizophrenia, revisited. The contribution of twin and high-risk studies.

    Science.gov (United States)

    Stabenau, J R; Pollin, W

    1993-05-01

    Life history study of monozygotic (MZ) twins discordant for schizophrenia led to the 1967 hypothesis that phenotypic schizophrenia was an expression of genotypic vulnerability interacting with prenatal and/or perinatal environmental experience. This report is a selected review of partial answers to five questions facing research efforts that have attempted to clarify the interactive gene-environment model of schizophrenia. Follow-up study of the offspring of MZ twins with a diagnosis of schizophrenia and their MZ co-twins without schizophrenia demonstrated equal rates of schizophrenia; hence, each group of offspring carried equal genetic vulnerability for schizophrenia. Magnetic resonance imaging study of MZ discordant twins found that phenotypic schizophrenia was characterized by brain ventricular enlargement and hippocampal reduction in 87-93% of the schizophrenic twins, when compared with their nonschizophrenic co-twins. A longitudinal study of teenage children at differential risk for schizophrenia showed that brain ventricular enlargement in adulthood correlated significantly and positively with genetic risk for schizophrenia and number of perinatal complications, and negatively with birth weight. Significantly greater dysmorphological hand skin signs among schizophrenic MZ twins when compared with their nonschizophrenic co-twins have suggested an in utero second trimester fetal developmental abnormality for the schizophrenic subjects. Simultaneous neuroanatomic, neurophysiological, and neurocognitive evaluation of MZ twin pairs discordant for schizophrenia demonstrated decreased prefrontal physiological cerebral blood flow activation during Wisconsin Card Sorting Test for affected twins correlated with decreased hippocampal volume determined by magnetic resonance imaging. These neurocognitive studies have suggested that schizophrenia involves neocortical-limbic pathology and dysfunction implicated in performance of cognitive tasks requiring working memory

  4. Guidelines for scanning twins and triplets with US and MRI

    Energy Technology Data Exchange (ETDEWEB)

    Calvo-Garcia, Maria A. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States)

    2016-02-15

    Multiple-fetus gestations have an increased risk of discordant anomalies, aneuploidy and growth restriction compared to singleton pregnancies. In addition, twins sharing the same placenta are at risk for developing specific conditions that are potentially amenable to surgical management. In those scenarios, patients might need to be evaluated not only with US but with fetal MRI as well. This paper outlines basic guidelines to consider when imaging complicated multiple-fetus gestations during the 2nd and 3rd trimesters. (orig.)

  5. Current Status and Update on Twin-to-twin Transfusion Syndrome%双胎输血综合征研究现状及新进展

    Institute of Scientific and Technical Information of China (English)

    张凌; 段涛

    2011-01-01

    Twin-to-twin transfusion syndrome (TTTS) is the most common major complications in monochorionic pregnancy.The onset of TTTS contribute to the role of placental vascular connection. But simple blood transfer from the donor to the recipient twin cannot explain all of the pathological mechanism of TTTS. The endocrinology change may contribute a possible explanation. The diagnosis of TTTS mainly depends on the ultrasound features. The widely used Quintero staging system in the estimation of twin-to-twin transfusion syndrome is still controversial. The selective fetoscopic laser coagulation of anastomosing vessels is currently considered the best modality and nervous system prognosis of treatment.%双胎输血综合征(twin-twin transfusion syndrome,TTTS)是单绒毛膜双胎最常见的一种并发痘.TTTS的发病机制尚不完全明确,胎盘间存在血管交通是其发病的必要条件,但它难以解释胎儿所有的病理生理,而内分泌改变为TTTS的发病机制提供了一种可能的解释.TTTS临床诊断主要依靠超声.Quintero分期是目前使用最广泛的分期标准,但其不能提供预测信息,存在一定的局限性.治疗方面,选择性胎儿镜下激光消融术有看较好的胎儿存活率及神经系统预后,优于传统治疗方法,有较好的发展前景.

  6. Pre-eclampsia (PE) and Chorionicity in Women with Twin Gestations

    Science.gov (United States)

    Singh, Anupama; Singh, Arati; Surapaneni, Tarakeswari; Nirmalan, Praveen Kumar

    2014-01-01

    Background: Pre-Eclampsia (PE) affects 6-31% of pregnant women with multiple gestations. There are conflicting reports on the association of PE with Chorionicity and zygosity; however, there is a lack of information on this potential association in a population of pregnant Asian Indian women. Aim: To determine as to whether chorionicity and zygosity were associated with PE in a population of Asian Indian women with twin gestations. Settings and Design: A retrospective observational study was done at a single tertiary care centre in Southern India. Material and Methods: The study included pregnant women with twin gestations, who was delivered at the study institute in 2012. Hypertension in pregnancy was categorized, based on the criteria of the International Society for the Study of Hypertension in Pregnancy. Chorionicity was determined by using ultrasonography and zygosity was determined, based on clinical criteria. Point estimates and the 95% Confidence Intervals (CI) around point estimates of PE and associations of chorionicity and zygosity with PE were determined by using bivariate analysis, logistic regression models and area under Receiver Operator Characteristic (ROC) curves. Results: This study included 208 women with twin gestations. The incidence of PE in dichorionic twin gestations was 13.17% (n=22, 95% CI: 8.66, 18.96), it was 4.87% (n=2, 95% CI: 0.83, 15.19) in monochorionic twin gestations, it was 16.36% (n=9, 95% CI: 8.29, 27.91) in dizygous twin gestations and it was 4.88% (n=2, 95% CI: 0.83, 15.19) in monozygous twin gestations. Neither chorionicity (adjusted OR: 2.59, 95% CI: 0.55, 12.19) nor zygosity (adjusted OR 2.72, 95% CI: 0.49, 15.13) were associated with PE In a multivariate logistic regression model. Conclusion: Although it was not statistically significant, the clinical incidence of PE was higher in dichorionic and dizygous twin gestations. PMID:24596736

  7. The Qingdao Twin Registry

    DEFF Research Database (Denmark)

    Duan, Haiping; Ning, Feng; Zhang, Dongfeng;

    2013-01-01

    In 1998, the Qingdao Twin Registry was initiated as the main part of the Chinese National Twin Registry. By 2005, a total of 10,655 twin pairs had been recruited. Since then new twin cohorts have been sampled, with one longitudinal cohort of adolescent twins selected to explore determinants...... of metabolic disorders and health behaviors during puberty and young adulthood. Adult twins have been sampled for studying heritability of multiple phenotypes associated with metabolic disorders. In addition, an elderly twin cohort has been recruited with a focus on genetic studies of aging-related phenotypes...

  8. Twin studies as a model for exploring the aetiology of autoimmune thyroid disease

    DEFF Research Database (Denmark)

    Brix, Thomas Heiberg; Hegedüs, Laszlo

    2012-01-01

    triggers such as cigarette smoking, birth characteristics, infection with Yersinia enterocolitica, microchimerism and degree of X chromosome inactivation (XCI) has been evaluated by investigating AITD discordant twin pairs. These studies indicate that smoking, Y. enterocolitica infection and skewed XCI may...

  9. Rapid Resolution of Polyhydramnios Foretells Circulatory Collapse for the Donor Twin in Feto-Fetal Transfusion Syndrome.

    Science.gov (United States)

    López-Cepero, Ronald; Santoro, Joseph; de la Vega, Alberto

    2016-03-01

    Feto-fetal transfusion syndrome is a pathological process unique to diamniotic monochorionic pregnancies. It is the consequence of an unbalanced fetal blood flow through communicating vessels within a shared placenta. When it occurs, a polyuric, hypervolemic recipient twin co-exists with a hypovolemic oliguric donor. The presence of polyhydramnios or oligohydramnios is considered a poor prognostic indicator, whereas normal amniotic fluid volumes indicate a lack of clinically significant twintwin transfusion. In addition, the spontaneous normalization of amniotic fluid volume is usually seen as a favorable prognostic sign. Here, however, we present a case of feto-fetal transfusion in a 31 year-old primigravida at 19 week, in which the spontaneous normalization of amniotic fluid volume in the recipient twin preceded the death of the donor.

  10. Twin Jet

    Science.gov (United States)

    Henderson, Brenda; Bozak, Rick

    2010-01-01

    Many subsonic and supersonic vehicles in the current fleet have multiple engines mounted near one another. Some future vehicle concepts may use innovative propulsion systems such as distributed propulsion which will result in multiple jets mounted in close proximity. Engine configurations with multiple jets have the ability to exploit jet-by-jet shielding which may significantly reduce noise. Jet-by-jet shielding is the ability of one jet to shield noise that is emitted by another jet. The sensitivity of jet-by-jet shielding to jet spacing and simulated flight stream Mach number are not well understood. The current experiment investigates the impact of jet spacing, jet operating condition, and flight stream Mach number on the noise radiated from subsonic and supersonic twin jets.

  11. Physical activity, fitness, glucose homeostasis, and brain morphology in twins.

    Science.gov (United States)

    Rottensteiner, Mirva; Leskinen, Tuija; Niskanen, Eini; Aaltonen, Sari; Mutikainen, Sara; Wikgren, Jan; Heikkilä, Kauko; Kovanen, Vuokko; Kainulainen, Heikki; Kaprio, Jaakko; Tarkka, Ina M; Kujala, Urho M

    2015-03-01

    The main aim of the present study (FITFATTWIN) was to investigate how physical activity level is associated with body composition, glucose homeostasis, and brain morphology in young adult male monozygotic twin pairs discordant for physical activity. From a population-based twin cohort, we systematically selected 10 young adult male monozygotic twin pairs (age range, 32-36 yr) discordant for leisure time physical activity during the past 3 yr. On the basis of interviews, we calculated a mean sum index for leisure time and commuting activity during the past 3 yr (3-yr LTMET index expressed as MET-hours per day). We conducted extensive measurements on body composition (including fat percentage measured by dual-energy x-ray absorptiometry), glucose homeostasis including homeostatic model assessment index and insulin sensitivity index (Matsuda index, calculated from glucose and insulin values from an oral glucose tolerance test), and whole brain magnetic resonance imaging for regional volumetric analyses. According to pairwise analysis, the active twins had lower body fat percentage (P = 0.029) and homeostatic model assessment index (P = 0.031) and higher Matsuda index (P = 0.021) compared with their inactive co-twins. Striatal and prefrontal cortex (subgyral and inferior frontal gyrus) brain gray matter volumes were larger in the nondominant hemisphere in active twins compared with those in inactive co-twins, with a statistical threshold of P physical activity is associated with improved glucose homeostasis and modulation of striatum and prefrontal cortex gray matter volume, independent of genetic background. The findings may contribute to later reduced risk of type 2 diabetes and mobility limitations.

  12. Genetic influences on Chronic Obstructive Pulmonary Disease - a twin study.

    Science.gov (United States)

    Ingebrigtsen, Truls; Thomsen, Simon F; Vestbo, Jørgen; van der Sluis, Sophie; Kyvik, Kirsten O; Silverman, Edwin K; Svartengren, Magnus; Backer, Vibeke

    2010-12-01

    Genes that contribute to the risk of developing Chronic Obstructive Pulmonary Disease (COPD) have been identified, but an attempt to accurately quantify the total genetic contribution to COPD has to our knowledge never been conducted. Hospital discharge diagnoses data on COPD were analysed in 22,422 Danish twin pairs, 20-71 years of age. The analyses were replicated in a population of 27,668 Swedish twin pairs, 45-108 years of age. A Cox-regression model was applied to the discordant time from the age at first hospital admission for COPD in the co-twin of an affected twin. Latent factor models were used to estimate genetic and environmental effects. The probandwise concordance rate for COPD was higher in monozygotic (MZ) than in dizygotic (DZ) twins, 0.19 vs. 0.07 (p = 0.08) in the Danish population, and 0.20 vs. 0.08 (p = 0.006) in the Swedish population. After adjusting for sex, smoking and age at first hospital admission the risk of developing COPD in the co-twin of an affected twin was higher in MZ than in DZ twins, with hazards ratio 4.3 (95% confidence interval 1.2-15.8, p = 0.03) in Danish twins and 3.4 (1.5-7.7, p = 0.004) in Swedish twins. According to the most parsimonious model, additive genetic factors explained 63% (46-77%) of the individual COPD-susceptibility in the Danish population and 61% (48-72%) in the Swedish population. The susceptibility to develop severe COPD, as defined by hospitalizations, is strongly influenced by genetic factors. Approximately 60% of the individual susceptibility can be explained by genetic factors. Copyright © 2010 Elsevier Ltd. All rights reserved.

  13. Quantum discord in de Sitter space

    CERN Document Server

    Kanno, Sugumi; Soda, Jiro

    2016-01-01

    We study quantum discord between two free modes of a massive scalar field in a maximally entangled state in de Sitter space. We introduce two observers, one in a global chart and the other in an open chart of de Sitter space, and the observers determine the quantum discord created by each detecting one of the modes. This situation is analogous to the relationship between an observer in a Minkowski chart and another in one of the two Rindler charts in flat space. We find that the state becomes less entangled as the curvature of the open chart gets larger. In particular, for the cases of a massless, and a conformally coupled scalar field, the entanglement vanishes in the limit of infinite curvature. However, we find that the quantum discord never disappears even in the limit that entanglement disappears.

  14. Geometric measure of quantum discord under decoherence

    CERN Document Server

    Xiao-Ming, Lu; Sun, Zhe; Wang, Xiaoguang

    2010-01-01

    The dynamics of a geometric measure of the quantum discord (GMQD) under decoherence is investigated. We show that the GMQD of a two-qubit state can be alternatively obtained through the singular values of a 3\\times4 matrix whose elements are the expectation values of Pauli matrices of the two qubits. By using Heisenberg picture, the analytic results of the GMQD is obtained for three typical kinds of the quantum decoherence channels. We compare the dynamics of the GMQD with that of the quantum discord and of entanglement and show that a sudden change in the decay rate of the GMQD does not always imply the sudden change in the decay rate of the quantum discord.

  15. Deformation twinning in monazite

    Energy Technology Data Exchange (ETDEWEB)

    Hay, R.S.; Marshall, D.B

    2003-10-20

    Polycrystalline monazite (LaPO{sub 4}) was deformed at room temperature by a spherical indenter. Deformation twins were identified by TEM in 70 grains. Five twin planes were found: (100) was by far the most common; (001) and (120) were less common; (122-bar)was rare, and kinks in (120) twins were identified as irrational '(483)' twin planes. The twinning modes on these planes were inferred from the expression of twinning shear at free surfaces, predictions of classical deformation twinning theory, and various considerations of twin morphology and crystal structure. Atomic shuffle calculations that allow formation of either a glide plane or a mirror plane at the twin interface were used to analyze twin modes. The inferred twin modes all have small atomic shuffles. For (001) twins, the smallest shuffles were obtained with a glide plane at the interface, with displacement vector R=((1)/(2))[010]. The results do not uniquely define a twin mode on (100), leaving open the possibility of more than one mode operating on this plane. Factors that may determine the operative deformation twinning modes are discussed. Crystal structure considerations suggest that the relative abundance of twinning modes may correlate with low shear modulus on the twin plane in the direction of twinning shear, and with a possible low-energy interface structure consisting of a layer of xenotime of one half-unit-cell thickness that could form at (100) and (001) twins. The three most common twins have low strains to low {sigma} coincidence site lattices (CSLs)

  16. The Norwegian Twin Registry.

    Science.gov (United States)

    Nilsen, Thomas S; Brandt, Ingunn; Magnus, Per; Harris, Jennifer R

    2012-12-01

    Norway has a long-standing tradition in twin research, but the data collected in several population-based twin studies were not coordinated centrally or easily accessible to the scientific community. In 2009, the Norwegian Twin Registry was established at the Norwegian Institute of Public Health (NIPH) in Oslo with the purpose of creating a single research resource for Norwegian twin data. As of today, the Norwegian Twin Registry contains 47,989 twins covering birth years 1895-1960 and 1967-1979; 31,440 of these twins consented to participate in health-related research. In addition, DNA from approximately 4,800 of the twins is banked at the NIPH biobank and new studies are continually adding new data to the registry. The value of the Norwegian twin data is greatly enhanced by the linkage opportunities offered by Norway's many nationwide registries, spanning a broad array of medical, demographic, and socioeconomic information.

  17. Craniofacial skeletal dysplasia of opposite-sex dizygotic twins.

    Science.gov (United States)

    Chou, Szu-Ting; Tseng, Yu-Chuan; Pan, Chin-Yun; Chang, Jenny Zwei-Chieng; Chang, Hong-Po

    2011-05-01

    Craniofacial skeletal dysplasia can lead to different skeletal malocclusions. Both environmental factors and heredity contribute to the formation of malocclusions. There are strong familial tendencies in the development of Angle's Class II and III malocclusions. Cases such as opposite-typed (Class II and III) malocclusions with skeletal and dentoalveolar discordance in siblings or dizygotic (DZ) twins have seldom been reported. We describe the rare case of a pair of opposite-sex DZ twins with completely different skeletal malocclusions, and discuss the clinical considerations for treatment. The patients were twins aged 13 years and 4 months. The girl had mandibular prognathism and a Class III dentoskeletal relationship, whereas the boy had skeletal Class II with mandibular retrusion. Several morphological traits have been implicated with hormonal effect. However, there was no evidence of whether the masculinization effect had any impact on jaw size in the female fetus or whether this effect lasted into adolescence. We suggest that, although DZ twins share the same growth environment, genetic or other unknown extrinsic factors can result in discordance of characteristics of the craniofacial skeleton, dentition, and occlusion. Copyright © 2011 Formosan Medical Association & Elsevier. Published by Elsevier B.V. All rights reserved.

  18. Craniofacial Skeletal Dysplasia of Opposite-sex Dizygotic Twins

    Directory of Open Access Journals (Sweden)

    Szu-Ting Chou

    2011-05-01

    Full Text Available Craniofacial skeletal dysplasia can lead to different skeletal malocclusions. Both environmental factors and heredity contribute to the formation of malocclusions. There are strong familial tendencies in the development of Angle's Class II and III malocclusions. Cases such as opposite-typed (Class II and III malocclusions with skeletal and dentoalveolar discordance in siblings or dizygotic (DZ twins have seldom been reported. We describe the rare case of a pair of opposite-sex DZ twins with completely different skeletal malocclusions, and discuss the clinical considerations for treatment. The patients were twins aged 13 years and 4 months. The girl had mandibular prognathism and a Class III dentoskeletal relationship, whereas the boy had skeletal Class II with mandibular retrusion. Several morphological traits have been implicated with hormonal effect. However, there was no evidence of whether the masculinization effect had any impact on jaw size in the female fetus or whether this effect lasted into adolescence. We suggest that, although DZ twins share the same growth environment, genetic or other unknown extrinsic factors can result in discordance of characteristics of the craniofacial skeleton, dentition, and occlusion.

  19. Risk factors for discordant immune response among HIV-infected ...

    African Journals Online (AJOL)

    2012-11-02

    Nov 2, 2012 ... had a discordant immune response and 7% (n=67) a discordant virological response. On multivariate analysis ... initial rapid increase of memory CD4 cells, succeeded by a slow ... were obtained from the Human Research.

  20. Association between physical and motor development in childhood: a longitudinal study of Japanese twins.

    Science.gov (United States)

    Silventoinen, Karri; Pitkäniemi, Janne; Latvala, Antti; Kaprio, Jaakko; Yokoyama, Yoshie

    2014-06-01

    Length and weight in infancy are associated with neurodevelopment, but less is known about growth in other anthropometric measures. In this study we analyzed how the development in length, weight, head circumference, and chest circumference over infancy is associated with motor development in early childhood, using a twin study design. Information on physical development over infancy and the age at achievement of eight developmental milestones over early childhood was collected for 370 Japanese twin pairs. Linear mixed models were used to analyze how physical development is associated with motor development between individual twins, as well as within twin pairs, adjusting the results for shared maternal and postnatal environmental factors. Delayed motor development was associated with smaller body size over infancy, and we also found some suggestive evidence that it was associated with catch-up growth as well. When studying the associations within twin pairs discordant for motor development, similar associations were found. However, chest circumference showed the most robust association within discordant twin pairs. Smaller body size and rapid catch-up growth are associated with delayed motor development. When studying these associations within twin pairs and thus adjusting the results for gestational age as well as many other maternal and postnatal environmental factors, chest circumference showed the most robust association. Chest circumference, rarely used in developed countries, can offer additional information on prenatal conditions relevant for further motor development not achieved by more traditional anthropometric measures.

  1. Parental Marital Discord and Treatment Response in Depressed Adolescents

    Science.gov (United States)

    Amaya, Meredith M.; Reinecke, Mark A.; Silva, Susan G.; March, John S.

    2011-01-01

    Evidence suggests that parental marital discord contributes to the development of internalizing and externalizing symptoms in children and adolescents. Few studies, however, have examined the association between parental marital discord and youth's response to treatment. The present study examined the impact of interparental discord on treatment…

  2. Parental Marital Discord and Treatment Response in Depressed Adolescents

    Science.gov (United States)

    Amaya, Meredith M.; Reinecke, Mark A.; Silva, Susan G.; March, John S.

    2011-01-01

    Evidence suggests that parental marital discord contributes to the development of internalizing and externalizing symptoms in children and adolescents. Few studies, however, have examined the association between parental marital discord and youth's response to treatment. The present study examined the impact of interparental discord on treatment…

  3. Sociodemographic Correlates of HIV Discordant and Concordant ...

    African Journals Online (AJOL)

    GB

    2017-07-01

    Jul 1, 2017 ... 289 (148 HIV-concordant and 141 HIV-discordant) couples, selected using .... facilities were manned by the same group of doctors on a ..... couple's willingness to adopt protective behavior .... Sex Health 2012;9:481-7. 35.

  4. Entanglement as minimal discord over state extensions

    Science.gov (United States)

    Luo, Shunlong

    2016-09-01

    The characterization and quantification of quantum correlations, which play an instrumental role in exploring and exploiting the quantum world, have been extensively and intensively studied in the past few decades. Of special prominence and significance are the concepts of entanglement and discord, which are usually regarded as very distinctive quantum correlations, with the latter going beyond the former. In this work we establish a direct and natural link between entanglement and discord via state extensions and reveal that entanglement is actually the intrinsic discord, by which we mean that entanglement is the irreducible residue of discord viewed from ambient spaces. Our approach, taking into account the contextuality of a quantum state and being of a global nature, stands in sharp contrast to the local operations and classical communication paradigm of entanglement, which focuses on the state itself via a local approach. Furthermore, we introduce a figure of merit which, on the one hand, captures the essence of entanglement, i.e., nonlocality and quantumness of correlations, and, on the other hand, leads to a quantitative decomposition of total correlations into classical correlations, dissonance, and entanglement. This demystifies the meaning of entanglement from the perspective of quantum measurements and provides a unified framework for the interplay of various correlations in terms of quantum measurements and mutual information.

  5. The Danish Twin Register

    DEFF Research Database (Denmark)

    Kyvik, K O; Christensen, Kaare; Skytthe, A;

    1996-01-01

    BACKGROUND: Population based twin registers represent a valuable tool for genetic epidemiological research, since twin studies aim at separating the effect of genes and environment for complex traits. The Danish Twin Register's history, size, ascertainment and completeness of data, as well as data...... accessibility and availability are described. RESULTS: The Danish Twin Register comprises 14,051 twin pairs born 1870-1930, representing all twins surviving to age six years, and 20,888 twin pairs born 1953-1982, representing 75% of those born 1953-1967 and 95% of those born 1968-1982. The birth cohorts 1931......-1952 og 1983-1993 are being ascertained at the moment. The register is available for research given certain conditions are fulfilled. CONCLUSION: This register will in a few years be the most comprehensive twin register in the world. It is a very valuable Danish research resource....

  6. The Danish Twin Register

    DEFF Research Database (Denmark)

    Kyvik, K O; Christensen, Kaare; Skytthe, A

    1996-01-01

    BACKGROUND: Population based twin registers represent a valuable tool for genetic epidemiological research, since twin studies aim at separating the effect of genes and environment for complex traits. The Danish Twin Register's history, size, ascertainment and completeness of data, as well as data...... accessibility and availability are described. RESULTS: The Danish Twin Register comprises 14,051 twin pairs born 1870-1930, representing all twins surviving to age six years, and 20,888 twin pairs born 1953-1982, representing 75% of those born 1953-1967 and 95% of those born 1968-1982. The birth cohorts 1931......-1952 og 1983-1993 are being ascertained at the moment. The register is available for research given certain conditions are fulfilled. CONCLUSION: This register will in a few years be the most comprehensive twin register in the world. It is a very valuable Danish research resource....

  7. Ultrasound estimation of birth weight in twin pregnancy: comparison of biometry algorithms in the STORK multiple pregnancy cohort.

    Science.gov (United States)

    Khalil, A; D'Antonio, F; Dias, T; Cooper, D; Thilaganathan, B

    2014-08-01

    The aims of this study were first, to ascertain the accuracy of formulae for ultrasonographic birth-weight estimation in twin compared with singleton pregnancies and second, to assess the accuracy of sonographic examination in the prediction of birth-weight discordance in twin pregnancies. This was a retrospective cohort study including both singleton and twin pregnancies. Routine biometry was recorded and estimated fetal weight (EFW) calculated using 33 different formulae. Only pregnancies that delivered within 48 h of the ultrasound scan were included (4280 singleton and 586 twin fetuses). Differences between the EFW and actual birth weight (ABW) were assessed by percentage error, accuracy in predictions within ± 10% and ± 15% of error and use of the Bland-Altman method. The accuracy of prediction of the different cut-offs of birth-weight discordance in twin pregnancies was also assessed using the area under the receiver-operating characteristics curve (AUC). The overall mean absolute percentage error was ≤ 10% for 25 formulae in singleton pregnancies compared with three formulae in twin pregnancies. The overall predictions within ± 10% and ± 15% of the ABW were 62.2% and 81.5% in singleton and 49.7% and 68.5% in twin pregnancies, respectively. When t e formulae were categorized according to the biometric parameters included, those based on a combination of head, abdomen and femur measurements showed the lowest mean absolute percentage error, in both singleton and twin pregnancies. The predictive accuracy for 25% birth-weight discordance using the Hadlock 2 formula, as assessed by the AUC, was 0.87. Ultrasound estimation of birth weight is less accurate in twin than in singleton pregnancies. Formulae that include a combination of head, abdomen and femur measurements perform best in both singleton and twin pregnancies. Copyright © 2013 ISUOG. Published by John Wiley & Sons Ltd.

  8. The TRAP (twin reversed arterial perfusion) sequence - case presentation.

    Science.gov (United States)

    Mărginean, Claudiu; Mărginean, Maria Oana; Mureşan, Daniel; Zahiu, LuminiŢa; Horváth, Emőke

    2016-01-01

    We present a particular case of TRAP (twin reversed arterial perfusion) syndrome, which has a very rarely association of the simultaneous existence of a rudimentary malformed heart and brain, and also other malformations like abdominal wall abnormality, absent bladder with present kidneys, and absence of the lungs, which appear only in a few cases on the receptor twin from this sequence, malformations incompatible with life. A Caucasian 26-year-old pregnant woman, at the first pregnancy, with a monochorionic-diamniotic pregnancy, 26 weeks of gestation was referred to our hospital, for polyhydramnios. The patient delivered a living female newborn, weighing 950 g, with an Apgar score of 2 at one minute - the donor fetus and a second female newborn with multiple malformations, no signs of life and who weighed 2300 g - the receptor fetus. The anatomopathological examination confirmed the TRAP sequence associated with severe facial dysmorphism, bilateral phocomelia and cardiac malformations (rudimentary hypoplastic, univentricular) and a vascular anastomosis between the two umbilical cords. Anemia and cardiac complications which can lead to cardiac failure, appear early during pregnancy and caused the death of the pumping twin. We emphasize that in our case of TRAP sequence, the ultrasound examination established the diagnosis of the syndrome with high accuracy. Therefore, we can conclude that the existence of a rudimentary heart and a vascular anastomosis between the two umbilical cords supports the apparition of TRAP sequence. The early diagnosis of this pathology, the observation of the pregnancy with the help of weekly ultrasounds and the intrauterine interventions can increase the survival chances of the donor fetus from the TRAP sequence.

  9. Discordant HIV couple: Analysis of the possible contributing factors

    Directory of Open Access Journals (Sweden)

    B C Ravikumar

    2013-01-01

    Full Text Available Several intricacies still abound with respect to HIV infection. Discordance is one such intriguing aspect of HIV infection. Out of 35 discordant couples included in the study. husbands were positive in 29 couples and wives in 6. Pre/extramarital affairs was the probable reason for HIV infection in 23 out of 29 discordant males, and 2 out of 6 discordant females. Even though, decreased frequency of sexual acts between the couple was the reason for discordance in a few, but in majority of the couples who had regular sexual contact for many years, the exact cause for discordance could not be ascertained. inherent resistance to HIV in some individuals may be the reasons for the discordance.

  10. Revealing interference by continuous variable discordant states.

    Science.gov (United States)

    Meda, A; Olivares, S; Degiovanni, I P; Brida, G; Genovese, M; Paris, M G A

    2013-08-15

    In general, a pair of uncorrelated Gaussian states mixed in a beam splitter (BS) produces a correlated state at the output. However, when the inputs are identical Gaussian states the output state is equal to the input, and no correlations appear, as the interference had not taken place. On the other hand, since physical phenomena do have observable effects, and the BS is there, a question arises on how to reveal the interference between the two beams. We prove theoretically and demonstrate experimentally that this is possible if at least one of the two beams is prepared in a discordant, i.e., Gaussian correlated, state with a third beam. We also apply the same technique to reveal the erasure of polarization information. Our experiment involves thermal states and the results show that Gaussian discordant states, even when they show a positive Glauber P-function, may be useful to achieve specific tasks.

  11. Genetic susceptibility to bilateral tinnitus in a Swedish twin cohort.

    Science.gov (United States)

    Maas, Iris Lianne; Brüggemann, Petra; Requena, Teresa; Bulla, Jan; Edvall, Niklas K; Hjelmborg, Jacob V B; Szczepek, Agnieszka J; Canlon, Barbara; Mazurek, Birgit; Lopez-Escamez, Jose A; Cederroth, Christopher R

    2017-09-01

    Genetic contributions to tinnitus have been difficult to determine due to the heterogeneity of the condition and its broad etiology. Here, we evaluated the genetic and nongenetic influences on self-reported tinnitus from the Swedish Twin Registry (STR). Cross-sectional data from the STR was obtained. Casewise concordance rates (the risk of one twin being affected given that his/her twin partner has tinnitus) were compared for monozygotic (MZ) and dizygotic (DZ) twin pairs (N = 10,464 concordant and discordant twin pairs) and heritability coefficients (the proportion of the total variance attributable to genetic factors) were calculated using biometrical model fitting procedures. Stratification of tinnitus cases into subtypes according to laterality (unilateral versus bilateral) revealed that heritability of bilateral tinnitus was 0.56; however, it was 0.27 for unilateral tinnitus. Heritability was greater in men (0.68) than in women (0.41). However, when female pairs younger than 40 years of age were selected, heritability of 0.62 was achieved with negligible effects of shared environment. Unlike unilateral tinnitus, bilateral tinnitus is influenced by genetic factors and might constitute a genetic subtype. Overall, our study provides the initial evidence for a tinnitus phenotype with a genetic influence.Genet Med advance online publication 23 March 2017.

  12. Cerebral asymmetry in twins: predictions of the right shift theory.

    Science.gov (United States)

    Annett, Marian

    2003-01-01

    A study of the heritability of lobar brain volumes in twins has introduced a new approach to questions about the genetics of cerebral asymmetry. In addition to the classic comparison between monozygotic (MZ) and dizygotic (DZ) twins, a contrast was made between pairs of two right-handers (RR pairs) and pairs including one or more non-right-hander (non-RR pairs), in the light of the right shift (RS) theory of handedness. This paper explains the predictions of the RS model for pair concordance for genotype, cerebral asymmetry and handedness in healthy MZ and DZ twins. It shows how predictions for cerebral asymmetry vary between RR and non-RR pairs over a range of incidences of left-handedness. Although MZ twins are always concordant for genotype and DZ twins may be discordant, differences for handedness and cerebral asymmetry are expected to be small, consistent with the scarcity of significant effects in the literature. Marked differences between RR and non-RR pairs are predicted at all levels of incidence, the differences slightly larger in MZ than DZ pairs.

  13. Monozygotic male twins concordant for Beckwith-Wiedemann syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Clemens, M.; McPherson, E.; Sherer, C. [West Penn Hospital, Pittsburgh, PA (United States)]|[Ludwig Institute for Cancer Reseach, LaJolla, CA (United States)] [and others

    1994-09-01

    The Beckwith-Wiedemann syndrome (BWS) is a multiple congenital anomaly syndrome characterized by macrosomia, macro glossia, visceromegaly, characteristic facies, and in some cases omphalocele, hypoglycemia, hemihypertrophy, and risk of embryonal tumors. Most cases occur sporadically in chromosomally normal individuals, but a few BWS patients have anomalies of 11p and others have evidence of microduplications or paternal isodisomy in this region. In some families with autosomal dominant transmission, BWS maps to 11p15.5, but the mechanism of transmission is not fully understood. BWS has been reported in 11 sets of MZ twins, including 10 female pairs (9 discordant and 1 partially concordant) and one male pair concordant for both BWS & dup 15q11.2-q13. We report a pair of premature male MZ twins with macroglossia, postnatal overgrowth, characteristic BWS facies, and mild developmental delay. One twin had hypoglycemia, but neither had omphalocele or hemihypertrophy and serial abdominal ultrasounds have been normal. DNA fingerprinting confirmed monozygosity. Chromosome studies showed a marker 11p14.2 in one twin only, and molecular genetic studies of the 11p15.5 region showed no evidence of duplication or isodisomy in either twin.

  14. A reassessment of biochemical marker distributions in trisomy 21-affected and unaffected twin pregnancies in the first trimester.

    Science.gov (United States)

    Madsen, H N; Ball, S; Wright, D; Tørring, N; Petersen, O B; Nicolaides, K H; Spencer, K

    2011-01-01

    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 for chromosomal abnormalities such as trisomy 21 in twin pregnancies. 4843 unaffected and 47 trisomy 21-affected twin pregnancies were included in the study. Chorionicity-specific medians were generated for PAPP-A and free β-hCG from gestational ages 8 to 14 weeks. Multiple of the median values for each 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. Medians for the two biochemical markers for monochorionic and dichorionic twins in unaffected pregnancies show a gestational age-specific increase relative to singleton medians. Allowing for gestation and chorionicity, twin pregnancies affected with trisomy 21 had higher levels of free β-hCG and lower levels of PAPP-A. Adding biochemistry into the risk assessment using a fixed risk cut-off of 1 in 100 increased the detection rate for fetal trisomy 21 in dizygotic twin pregnancies from 78 to 90%, and decreased the false-positive rate from 8.0 to 5.9%. Generation of chorionicity-specific medians for the biochemical markers and their use in risk assessment can improve the performance of first-trimester screening for chromosomal abnormalities in twins to a level comparable with that in singleton pregnancies.

  15. Malaysian Twin Registry.

    Science.gov (United States)

    Jahanfar, Shayesteh; Jaffar, Sharifah Halimah

    2013-02-01

    The National Malaysian Twin Registry was established in Royal College of Medicine, Perak, University Kuala Lumpur (UniKL) in June 2008 through a grant provided by UniKL. The general objective is to facilitate scientific research involving participation of twins and their family members in order to answer questions of health and wellbeing relevant to Malaysians. Recruitment is done via mass media, poster, and pamphlets. We now have 266 adult and 204 children twins registered. Several research projects including reproductive health study of twins and the role of co-bedding on growth and development of children are carried out. Registry holds annual activities for twins and seeks to provide health-related information for twins. We seek international collaboration.

  16. Measurement-based method for verifying quantum discord

    Science.gov (United States)

    Rahimi-Keshari, Saleh; Caves, Carlton M.; Ralph, Timothy C.

    2013-01-01

    We introduce a measurement-based method for verifying quantum discord of any bipartite quantum system. We show that by performing an informationally complete positive operator valued measurement (IC-POVM) on one subsystem and checking the commutativity of the conditional states of the other subsystem, quantum discord from the second subsystem to the first can be verified. This is an improvement upon previous methods, which enables us to efficiently apply our method to continuous-variable systems, as IC-POVM's are readily available from homodyne or heterodyne measurements. We show that quantum discord for Gaussian states can be verified by checking whether the peaks of the conditional Wigner functions corresponding to two different outcomes of heterodyne measurement coincide at the same point in the phase space. Using this method, we also prove that the only Gaussian states with zero discord are product states; hence, Gaussian states with Gaussian discord have nonzero quantum discord.

  17. Perinatal hepatic infarction in twin-twin transfusion.

    LENUS (Irish Health Repository)

    O'Sullivan, M J

    2012-02-03

    We report a case of a twin pregnancy which was complicated by a twin-twin transfusion in which the recipient twin was noted to have an intra-abdominal echogenic mass. This twin died at two days of age of hepatic infarction. The donor twin was healthy at birth, at thirty weeks\\' gestation, and did not have any subsequent problems. Fetal intra-abdominal echogenicity may be a marker of hepatic infarction.

  18. Relating quantum discord with the quantum dense coding capacity

    Energy Technology Data Exchange (ETDEWEB)

    Wang, Xin; Qiu, Liang, E-mail: lqiu@cumt.edu.cn; Li, Song; Zhang, Chi [China University of Mining and Technology, School of Sciences (China); Ye, Bin [China University of Mining and Technology, School of Information and Electrical Engineering (China)

    2015-01-15

    We establish the relations between quantum discord and the quantum dense coding capacity in (n + 1)-particle quantum states. A necessary condition for the vanishing discord monogamy score is given. We also find that the loss of quantum dense coding capacity due to decoherence is bounded below by the sum of quantum discord. When these results are restricted to three-particle quantum states, some complementarity relations are obtained.

  19. The Brazilian Twin Registry.

    Science.gov (United States)

    Ferreira, Paulo H; Oliveira, Vinicius C; Junqueira, Daniela R; Cisneros, Lígia C; Ferreira, Lucas C; Murphy, Kate; Ordoñana, Juan R; Hopper, John L; Teixeira-Salmela, Luci F

    2016-12-01

    The Brazilian Twin Registry (BTR) was established in 2013 and has impelled twin research in South America. The main aim of the initiative was to create a resource that would be accessible to the Brazilian scientific community as well as international researchers interested in the investigation of the contribution of genetic and environmental factors in the development of common diseases, phenotypes, and human behavior traits. The BTR is a joint effort between academic and governmental institutions from Brazil and Australia. The collaboration includes the Federal University of Minas Gerais (UFMG) in Brazil, the University of Sydney and University of Melbourne in Australia, the Australian Twin Registry, as well as the research foundations CNPq and CAPES in Brazil. The BTR is a member of the International Network of Twin Registries. Recruitment strategies used to register twins have been through participation in a longitudinal study investigating genetic and environmental factors for low back pain occurrence, and from a variety of sources including media campaigns and social networking. Currently, 291 twins are registered in the BTR, with data on demographics, zygosity, anthropometrics, and health history having been collected from 151 twins using a standardized self-reported questionnaire. Future BTR plans include the registration of thousands of Brazilian twins identified from different sources and collaborate nationally and internationally with other research groups interested on twin studies.

  20. Delivery in Twin Gestation

    Directory of Open Access Journals (Sweden)

    Mark T. Peters

    1995-01-01

    Full Text Available Objective: The objective of this study was to determine whether prophylactic treatment with oral broad-spectrum antimicrobial therapy improves pregnancy outcomes in twin gestations.

  1. A study of diabetes mellitus within a large sample of Australian twins

    DEFF Research Database (Denmark)

    Condon, Julianne; Shaw, Joanne E; Luciano, Michelle;

    2008-01-01

    with type 2 diabetes (T2D), 41 female pairs with gestational diabetes (GD), 5 pairs with impaired glucose tolerance (IGT) and one pair with MODY. Heritabilities of T1D, T2D and GD were all high, but our samples did not have the power to detect effects of shared environment unless they were very large......Twin studies of diabetes mellitus can help elucidate genetic and environmental factors in etiology and can provide valuable biological samples for testing functional hypotheses, for example using expression and methylation studies of discordant pairs. We searched the volunteer Australian Twin...... Registry (19,387 pairs) for twins with diabetes using disease checklists from nine different surveys conducted from 1980-2000. After follow-up questionnaires to the twins and their doctors to confirm diagnoses, we eventually identified 46 pairs where one or both had type 1 diabetes (T1D), 113 pairs...

  2. Does educational status impact adult mortality in Denmark? A twin approach

    DEFF Research Database (Denmark)

    Madsen, Mia; Andersen, Anne-Marie Nybo; Christensen, Kaare;

    2010-01-01

    design. The study is based on data from the Danish Twin Registry and Statistics Denmark. Using Cox regression, they estimated hazard ratios for mortality according to the highest attained education among 5,260 monozygotic and 11,088 dizygotic same-sex twin pairs born during 1921-1950 and followed during......To disentangle an independent effect of educational status on mortality risk from direct and indirect selection mechanisms, the authors used a discordant twin pair design, which allowed them to isolate the effect of education by means of adjustment for genetic and environmental confounding per......-1935, and no effect modification by zygosity was observed. Hence, the results are most compatible with an effect of early family environment in explaining the educational inequality in mortality. However, large educational differences were still reflected in mortality risk differences within twin pairs, thus...

  3. Longitudinal annular displacement by M-mode (MAPSE and TAPSE) in twin-to-twin transfusion syndrome before and after laser surgery.

    Science.gov (United States)

    Ortiz, Javier U; Crispi, Fatima; Yamamoto, Ryo; Masoller, Narcis; Cruz-Lemini, Monica; Gómez, Olga; Bennasar, Mar; Lobmaier, Silvia M; Eixarch, Elisenda; Martinez, Josep M; Gratacós, Eduard

    2015-12-01

    To evaluate mitral and tricuspid annular plane systolic excursion (MAPSE and TAPSE) in fetuses with twin-to-twin transfusion syndrome (TTTS) before and after laser therapy. A prospective study in 24 fetal pairs with TTTS evaluated 24 h before and within 48 h after fetoscopy and 13 gestational age-matched normal monochorionic fetal pairs. MAPSE and TAPSE were measured in an apical or basal four-chamber view by placing the M-mode cursor at the lateral valve ring. Mean preoperative MAPSE (controls 3.6 ± 1.3 mm vs. donors 2.7 ± 0.8 mm vs. recipients 2.8 mm ± 0.9; P < 0.001) and TAPSE (controls 4.4 ± 1.5 mm vs. donors 3.3 ± 1 mm vs. recipients 3.6  ± 1.1 mm; P < 0.001) values were significantly reduced in both TTTS fetuses. When subdividing according to TTTS stages, changes were significant in both stage I-II and III-IV subgroups, although differences were more pronounced in the latter. All observations remained unchanged 48 h post-fetoscopy. Both recipient and donor fetuses had decreased global longitudinal motion, even in early TTTS stages. © 2015 John Wiley & Sons, Ltd.

  4. [Multiple pregnancy at 11+0 - 13+6 weeks].

    Science.gov (United States)

    Nicolaides, Kypros H; Wegrzyn, Piotr

    2006-03-01

    Chorionicity, rather than zygosity, is the main factor determining pregnancy outcome. In monochorionic twins the rates of miscarriage, perinatal death, preterm delivery, fetal growth restriction and fetal abnormalities are much higher than in dichorionic twins. High mortality confined to monochorionic pregnancies is the consequence of severe early-onset TTTS. Death of a monochorionic fetus is associated with a high chance of sudden death or severe neurological damage in the co-twin. Sonographic examination provides reliable distinction between dichorionic and monochorionic pregnancies. Reduction of the excess fetal loss in twins, can only be achieved through early identification of monochorionic pregnancies by ultrasound examination at 11+0 - 13+6 weeks, close surveillance and appropriate treatment in those that develop severe TTTS. In multiple pregnancies, compared to singletons, prenatal diagnosis of chromosomal abnormalities is complicated because, firstly, the techniques of invasive testing may provide uncertain results or may be associated with higher risks of miscarriage and, secondly, the fetuses may be discordant for an abnormality.

  5. EFFECTS OF LONG-TERM PHYSICAL ACTIVITY ON CARDIAC STRUCTURE AND FUNCTION: A TWIN STUDY

    Directory of Open Access Journals (Sweden)

    Urho M.Kujala

    2009-12-01

    Full Text Available Previous studies have shown that athletic training or other physical activity causes structural and functional adaptations in the heart, but less is known how long-term physical activity affects heart when genetic liability and childhood environment are taken into account. The aim of this study was to investigate the effects of long-term physical activity vs. inactivity on cardiac structure and function in twin pairs discordant for physical activity for 32 years. Twelve same-sex twin pairs (five monozygotic and seven dizygotic, 50-67 years were studied as a part of the TWINACTIVE study. Discordance in physical activity was initially determined in 1975 and it remained significant throughout the follow-up. At the end of the follow-up in 2007, resting echocardiographic and electrocardiographic measurements were performed. During the follow-up period, the active co-twins were on average 8.2 (SD 4.0 MET hours/day more active than their inactive co-twins (p < 0.001. At the end of the follow-up, resting heart rate was lower in the active than inactive co-twins [59 (SD 5 vs. 68 (SD 10 bpm, p=0.03]. The heart rate-corrected QT interval was similar between the co-twins. Also, there was a tendency for left ventricular mass per body weight to be greater and T wave amplitude in lead II to be higher in the active co-twins (18% and 15%, respectively, p=0.08 for both. Similar trends were found for both monozygotic and dizygotic twin pairs. In conclusion, the main adaptation to long- term physical activity is lowered resting heart rate, even after partially or fully controlling for genetic liability and childhood environment

  6. Abnormal N400 Semantic Priming Effect May Reflect Psychopathological Processes in Schizophrenia: A Twin Study

    Directory of Open Access Journals (Sweden)

    Anuradha Sharma

    2017-01-01

    Full Text Available Objective. Activation of semantic networks is indexed by the N400 effect. We used a twin study design to investigate whether N400 effect abnormalities reflect genetic/trait liability or are related to psychopathological processes in schizophrenia. Methods. We employed robust linear regression to compare N400 and behavioral priming effects across 36 monozygotic twin pairs (6 pairs concordant for schizophrenia/schizoaffective disorder, 11 discordant pairs, and 19 healthy control pairs performing a lexical decision task. Moreover, we examined the correlation between Brief Psychiatric Rating Scale (BPRS score and the N400 effect and the influence of medication status on this effect. Results. Regression yielded a significant main effect of group on the N400 effect only in the direct priming condition (p=0.003. Indirect condition and behavioral priming effect showed no significant effect of group. Planned contrasts with the control group as a reference group revealed that affected concordant twins had significantly reduced N400 effect compared to controls, and discordant affected twins had a statistical trend for reduced N400 effect compared to controls. The unaffected twins did not differ significantly from the controls. There was a trend for correlation between reduced N400 effect and higher BPRS scores, and the N400 effect did not differ significantly between medicated and unmedicated patients. Conclusions. Reduced N400 effect may reflect disease-specific processes in schizophrenia implicating frontotemporal brain network in schizophrenia pathology.

  7. Management of Fetal Growth Arrest in One of Dichorionic Twins: Three Cases and a Literature Review

    Directory of Open Access Journals (Sweden)

    Shoji Kaku

    2015-01-01

    Full Text Available Progressive fetal growth restriction (FGR is often an indication for delivery. In dichorionic diamniotic (DD twin pregnancy with growth restriction only affecting one fetus (selective fetal growth restriction: sFGR, the normal twin is also delivered prematurely. There is still not enough evidence about the optimal timing of delivery for DD twins with sFGR in relation to discordance and gestational age. We report three sets of DD twins with sFGR (almost complete growth arrest affecting one fetus for ≥2 weeks before 30 weeks of gestation. The interval from growth arrest to delivery was 21–24 days and the discordance was 33.7–49.8%. A large-scale study showed no difference of overall mortality or the long-term outcome between immediate and delayed delivery for FGR, while many studies have identified a risk of developmental delay following delivery of the normal growth fetus before 32 weeks. Therefore, delivery of DD twins with sFGR should be delayed if the condition of the sFGR fetus permits in order to increase the gestational age of the normal growth fetus.

  8. The Danish Twin Registry

    DEFF Research Database (Denmark)

    Skytthe, Axel; Ohm Kyvik, Kirsten; Vilstrup Holm, Niels

    2011-01-01

    Introduction: The Danish Twin Registry is a unique source for studies of genetic, familial and environmental factors on life events, health conditions and diseases. Content: More than 85,000 twin pairs born 1870-2008 in Denmark. Validity and coverage: Four main ascertainment methods have been emp...

  9. Monochorionic-triamniotic triplet pregnancy after intracytoplasmic sperm injection, assisted hatching, and two-embryo transfer: first reported case following IVF

    Directory of Open Access Journals (Sweden)

    Eller Daniel P

    2003-08-01

    Full Text Available Abstract Background We present a case of monochorionic-triamniotic pregnancy that developed after embryo transfer following in vitro fertilization (IVF. Methods After controlled ovarian hyperstimulation and transvaginal retrieval of 22 metaphase II oocytes, fertilization was accomplished with intracytoplasmic sperm injection (ICSI. Assisted embryo hatching was performed, and two embryos were transferred in utero. One non-transferred blastocyst was cryopreserved. Results Fourteen days post-transfer, serum hCG level was 423 mIU/ml and subsequent transvaginal ultrasound revealed a single intrauterine gestational sac with three separate amnion compartments. Three distinct foci of cardiac motion were detected and the diagnosis was revised to monochorionic-triamniotic triplet pregnancy. Antenatal management included cerclage placement at 19 weeks gestation and hospital admission at 28 weeks gestation due to mild preeclampsia. Three viable female infants were delivered via cesarean at 30 5/7 weeks gestation. Conclusions The incidence of triplet delivery in humans is approximately 1:6400, and such pregnancies are classified as high-risk for reasons described in this report. We also outline an obstetric management strategy designed to optimize outcomes. The roles of IVF, ICSI, assisted embryo hatching and associated laboratory culture conditions on the subsequent development of monozygotic/monochorionic pregnancy remain controversial. As demonstrated here, even when two-embryo transfer is employed after IVF the statistical probability of monozygotic multiple gestation cannot be reduced to zero. We encourage discussion of this possibility during informed consent for the advanced reproductive technologies.

  10. Sleep quality and body mass index: a co-twin study.

    Science.gov (United States)

    Madrid-Valero, Juan J; Martínez-Selva, José M; Ordoñana, Juan R

    2017-08-01

    There is a consistent relationship between body mass index and sleep quality. However, the directionality and possible confounding factors of this relationship are unclear. Our aim is to confirm the association between sleep quality and body mass index, independent of possible genetic confounding, as well as to provide some indirect inferences about the directionality of this association. The co-twin study design was used to analyse the body mass index-sleep relationship in a sample of 2150 twins. We selected two parallel sub-samples of twins discordant for body mass index (n = 430 pairs), or discordant for sleep quality (n = 316 pairs). Sleep quality and body mass index showed an inverse relationship (b = 0.056, P = 0.032) in the global sample. When twins discordant for body mass index were selected, this association maintained a similar effect size and statistical significance, at all levels of the case-control analysis (all discordant pairs b = 0.173, P body mass index and sleep quality appeared weaker and lost significance (b = 0.021, P = 0.508). The analyses including only dizygotic (b = 0.028, P = 0.526) or monozygotic (b = 0.001, P = 0.984) pairs produced similar non-significant results. Our results confirm the relationship between sleep quality and body mass index, even after applying high levels of control, including genetic factors. Moreover, this study suggests a possible directionality of this relationship, such that sleep quality would strongly affect body mass index, while the opposite would be less robust and consistent in non-clinical samples. © 2017 European Sleep Research Society.

  11. Role of genetic and environmental factors in British twins with inflammatory bowel disease.

    Science.gov (United States)

    Ng, Siew C; Woodrow, Susannah; Patel, Nisha; Subhani, Javaid; Harbord, Marcus

    2012-04-01

    Twin studies provide insight into the complex interaction between genetic and environmental factors in the development of inflammatory bowel disease (IBD). We assessed associations between childhood environmental factors and development of Crohn's disease (CD) and ulcerative colitis (UC) in twins. Questionnaires on clinical demographics and exposure to environmental factors were sent to twins with IBD, their healthy co-twins, and their doctors. Kappa statistics were used to examine agreement between twin pairs and odds ratios were calculated by conditional logistic regression. In all, 250 IBD twin pairs (122 CD; 125 UC; 3 CD/UC; 28 concordant pairs) were analyzed. Concordant monozygotic twins with CD showed good agreement for disease location (κ 0.88; 95% confidence interval [CI]: 0.45-1.00), disease behavior (κ 1.00; 95% CI: 0.43-1.00), and moderate agreement for age at diagnosis and need for medical and surgical therapy. Concordant monozygotic twins with UC showed good agreement for disease extent (κ 0.60; CI 0.13-1.00) and use of thiopurines (κ 0.73; CI 0.10-1.00). In discordant twins, symptomatic childhood mumps infection (odds ratio [OR], 3.8; 95% CI, 1.2-11.3) and oral contraceptives (OR, 4.0; 1.1-14.2) were associated with CD. Smoking was associated with CD (OR, 4.3; 95% CI, 1.9-9.8) but inversely associated with UC (OR, 0.3; 95% CI, 0.1-0.9). Both CD and UC twins had suffered more "gastroenteritis" and spent more time with animals than their co-twins. Disease phenotype in CD and disease extent in UC appeared to be genetically influenced. Smoking is a risk factor for CD but is protective for UC. Early exposure to "infections" during childhood may be associated with the development of IBD. Copyright © 2011 Crohn's & Colitis Foundation of America, Inc.

  12. Sources of gene tree discordance on oryza (poaceae) chromosome 3

    Science.gov (United States)

    We describe new methods for characterizing gene tree discordance in phylogenomic datasets, which screen for deviations from neutral expectations, summarize variation in statistical support among gene trees, and allow comparison of the patterns of discordance induced by various analysis choices. Usin...

  13. Quantum discord and its allies: a review of recent progress.

    Science.gov (United States)

    Bera, Anindita; Das, Tamoghna; Sadhukhan, Debasis; Singha Roy, Sudipto; Sen De, Aditi; Sen, Ujjwal

    2017-08-21

    We review concepts and methods associated with quantum discord and related topics. We also describe their possible connections with other aspects of quantum information and beyond, including quantum communication, quantum computation, many-body physics, and open quantum dynamics. Quantum discord in the multiparty regime and its applications are also discussed. © 2017 IOP Publishing Ltd.

  14. Multipartite distribution property of one way discord beyond measurement

    Science.gov (United States)

    Liu, Si-Yuan; Zhang, Yu-Ran; Yang, Wen-Li; Fan, Heng

    2015-03-01

    We investigate the distribution property of one way discord in the multipartite system by introducing the concept of polygamy deficit for one way discord. The difference between one way discord and quantum discord is analogue to the one between entanglement of assistance and entanglement of formation. For tripartite pure states, two kinds of polygamy deficits are presented with the equivalent expressions and physical interpretations regardless of measurement. For four-partite pure states, we provide a condition which makes one way discord polygamy satisfied. In addition, we generalize these results to the case for N-partite pure states. Those results can be applicable to multipartite quantum systems and are complementary to our understanding of the shareability of quantum correlations.

  15. Neonatal status of twins

    Directory of Open Access Journals (Sweden)

    Božinović Dragica

    2012-01-01

    Full Text Available Multiple pregnancy is a pregnancy where more than one fetus develops simultaneously in the womb, as a result of the ovulation and fertilization of more than one egg. It is relatively rare in humans and represents the rest of the phylogenetic stages. The most common are twins and they indicate the development of two fetuses in the womb. The frequency of twin pregnancies is about 1%. Multiple pregnancies belong to a group of high-risk pregnancies because of the many complications that occur during the pregnancy: higher number of premature deliveries, bleeding, early neonatal complications and higher perinatal morbidity and mortality. Such pregnancies and infants require greater supervision and monitoring. The aim of this study was to determine the percentage of baby twins born at the maternity ward of the General Hospital in Prokuplje and their morbidity and mortality. Data on the total number of deliveries, number of twins, parity and maternal age, gestational age, body weight of twins, method of delivery, Apgar score and perinatal mortality were collected and statistically analyzed by means of retrospective analysis of operative birth and neonatal protocol for 6 years (2005 of 2010. Out of 4527 mothers who gave birth 43 were pairs of twins, or 0.95% of women gave birth to twins. These babies are more likely born by Caesarean section, but delivered with slightly lower birth weight.

  16. Circulating MicroRNAs and Life Expectancy Among Identical Twins.

    Science.gov (United States)

    Wu, Shenghui; Kim, Taek-Kyun; Wu, Xiaogang; Scherler, Kelsey; Baxter, David; Wang, Kai; Krasnow, Ruth E; Reed, Terry; Dai, Jun

    2016-09-01

    Human life expectancy is influenced not only by longevity assurance mechanisms and disease susceptibility loci but also by the environment, gene-environment interactions, and chance. MicroRNAs (miRNAs) are a class of small noncoding RNAs closely related to genes. Circulating miRNAs have been shown as promising noninvasive biomarkers in the development of many pathophysiological conditions. However, the concentration of miRNA in the circulation may also be affected by environmental factors. We used a next-generation sequencing platform to assess the association of circulating miRNA with life expectancy, for which deaths are due to all causes independent of genes. In addition, we showed that miRNAs are present in 41-year archived plasma samples, which may be useful for both life expectancy and all-cause mortality risk assessment. Plasma miRNAs from nine identical male twins were profiled using next-generation sequencing. The average absolute difference in the minimum life expectancy was 9.68 years. Intraclass correlation coefficients were above 0.4 for 50% of miRNAs. Comparing deceased twins with their alive co-twin brothers, the concentrations were increased for 34 but decreased for 30 miRNAs. Identical twins discordant in life expectancy were dissimilar in the majority of miRNAs, suggesting that environmental factors are pivotal in miRNAs related to life expectancy.

  17. Clinical characteristics of fetal and neonatal outcomes in twin pregnancy with preeclampsia in a retrospective case–control study

    Science.gov (United States)

    Yuan, Ting; Wang, Wei; Li, Xue-Lan; Li, Chun-Fang; Li, Chao; Gou, Wen-Li; Han, Zhen

    2016-01-01

    Abstract The aim of our study was to compare the clinical characteristics of fetal and neonatal outcomes in twin pregnancies between women with preeclampsia (PE) and those with normotension in a Chinese population. There were 143 preeclamptic women and 367 normotensive women with twin pregnancies included in this retrospective case–control study. The baseline characteristics and perinatal outcomes were collected and compared between the groups. Multiple logistic regression and linear regression were used to assess the correlations between PE and the outcomes. Significant increases were observed in the frequencies of preterm delivery (OR = 2.75, P < 0.001), iatrogenic preterm birth (OR = 3.52, P < 0.001), and IUGR (OR = 2.94, P = 0.001) in the PE group, and the PE group had more than a 2-fold risk of adverse neonatal outcomes. Preeclamptic twin neonates had lower birth weights (β = −147.34, P = 0.005; β = −169.47, P = 0.001). The comparison on the discordance of intertwin weight was not significantly different. Twin pregnancies with PE are associated with worse perinatal outcomes. The adverse outcomes of preeclamptic twin pregnancies may be associated with lower birth weights rather than the discordance of the intertwin weight, which requires further confirmation. The results may provide helpful references for better clinical assessments, evaluations of prognosis, and a deeper understanding of preeclamptic twin pregnancies. PMID:27787375

  18. Resolution of superimposed pre-eclampsia, and improvement in umbilical artery flow in a surviving twin after intrauterine demise of its co-twin.

    Science.gov (United States)

    Narasimhulu, Deepa M; Karakash, Scarlett; Rankin, Linda; Minkoff, Howard

    2015-09-01

    Pre-eclampsia has a progressive clinical course, and is only cured by delivery of the placenta. We report a 30-year-old G1P0 with dichorionic twins, discordant growth and chronic hypertension who developed superimposed pre-eclampsia in her 21st week of gestation. After intrauterine demise of the severely growth-restricted twin, the superimposed pre-eclampsia resolved. The surviving twin initially had absent end diastolic flow, which resolved after the demise. A healthy 1935-g neonate with Apgar 9/9 was delivered at 34 weeks. Antenatal resolution of pre-eclampsia is extremely rare and resolution of superimposed pre-eclampsia has not, to our knowledge, been reported.

  19. SUSY Meets Her Twin

    CERN Document Server

    Katz, Andrey; Pokorski, Stefan; Redigolo, Diego; Ziegler, Robert

    2016-01-01

    We investigate the general structure of mirror symmetry breaking in the Twin Higgs scenario. We show, using the IR effective theory, that a significant gain in fine tuning can be achieved if the symmetry is broken hardly. We emphasize that weakly coupled UV completions can naturally accommodate this scenario. We analyze SUSY UV completions and present a simple Twin SUSY model with a tuning of around 10% and colored superpartners as heavy as 2 TeV. The collider signatures of general Twin SUSY models are discussed with a focus on the extended Higgs sectors.

  20. SUSY Meets Her Twin

    CERN Document Server

    Katz, Andrey; Pokorski, Stefan; Redigolo, Diego; Ziegler, Robert

    2017-01-01

    We investigate the general structure of mirror symmetry breaking in the Twin Higgs scenario. We show, using the IR effective theory, that a significant gain in fine tuning can be achieved if the symmetry is broken hardly. We emphasize that weakly coupled UV completions can naturally accommodate this scenario. We analyze SUSY UV completions and present a simple Twin SUSY model with a tuning of around 10% and colored superpartners as heavy as 2 TeV. The collider signatures of general Twin SUSY models are discussed with a focus on the extended Higgs sectors.

  1. SUSY Meets Her Twin

    CERN Document Server

    Katz, Andrey; Pokorski, Stefan; Redigolo, Diego; Ziegler, Robert

    2017-01-31

    We investigate the general structure of mirror symmetry breaking in the Twin Higgs scenario. We show, using the IR effective theory, that a significant gain in fine tuning can be achieved if the symmetry is broken hardly. We emphasize that weakly coupled UV completions can naturally accommodate this scenario. We analyze SUSY UV completions and present a simple Twin SUSY model with a tuning of around 10% and colored superpartners as heavy as 2 TeV. The collider signatures of general Twin SUSY models are discussed with a focus on the extended Higgs sectors.

  2. Observed Rate of Down Syndrome in Twin Pregnancies.

    Science.gov (United States)

    Sparks, Teresa N; Norton, Mary E; Flessel, Monica; Goldman, Sara; Currier, Robert J

    2016-11-01

    To evaluate the observed incidence of Down syndrome in twins compared with that expected based on maternal age-matched singletons, which is the current clinical approach. This was a retrospective review of California Prenatal Screening Program participants with expected delivery dates between July 1995 and December 2012. Cases confirmed prenatally or postnatally with a genetic imbalance leading to phenotypic Down syndrome (trisomy 21, mosaic trisomy 21, or translocations) were included. Pregnancies conceived with ovum donation and women older than 45 years were excluded. We compared the observed Down syndrome incidence per pregnancy for twins with expected incidence by extrapolating from singleton data and expected zygosity as is the current clinical approach. This extrapolation assumes that monozygotic pregnancies have equivalent Down syndrome risk per pregnancy relative to maternal age-matched singletons and dizygotic pregnancies have twice the risk of at least one affected fetus. Zygosity for affected cases was presumed to be monozygotic with Down syndrome concordance and dizygotic with Down syndrome discordance. Counts were compared using cumulative Poisson distributions. Of 77,279 twin pregnancies, 182 (0.2%) had at least one fetus with Down syndrome confirmed by karyotype. The ratio of observed-to-expected Down syndrome incidence per pregnancy was 33.6%, 75.2%, and 70.0% for monozygotic, dizygotic, and all twins, respectively (PDown syndrome incidence was seen for women aged 25 to 45 years with monozygotic pregnancies and overall for women aged 25 to 45 years with dizygotic pregnancies. The observed incidence of Down syndrome in twin pregnancies is lower than expected, most notably for monozygotic pregnancies and with increasing maternal age. Risk-based counseling can strongly affect women's choices regarding testing and management during pregnancy, so an understanding of the true Down syndrome risk in twin gestations is crucial.

  3. Genetic and experiential influences on behavior: Twins reunited at seventy-eight years.

    Science.gov (United States)

    Segal, Nancy L; Cortez, Franchesca A; Zettel-Watson, Laura; Cherry, Barbara J; Mechanic, Mindy; Munson, Jaimee E; Velázquez, Jaime M A; Reed, Brandon

    2015-01-01

    Twins living in different countries offer opportunities to explore associations between observed differences and experiential effects. This report compared the life histories, cognitive abilities, personality traits, psychomotor skills, medical characteristics, job satisfaction, social support and social relations of dizygotic (DZ) female twins reunited at 78, the world's longest separated set. The twins' advanced age also enabled a study of how co-twin differences in aging may be associated with current behavioral and social differences. Consistent with previous studies, these dizygotic reared apart (DZA) twins showed discordance across some, but not all, traits. Their different rearing situations and life histories may explain current differences in their responses to meeting their twin. This case highlights the importance of both genetic and rearing factors on behavior, but does not allow firm conclusions regarding the extent to which these sources explain individual developmental differences. However, such data contribute to the growing number of cross-culturally separated twins, generating novel hypotheses that may be assessed using larger samples.

  4. Is Chronic Low Back Pain Associated with the Prevalence of Coronary Heart Disease when Genetic Susceptibility Is Considered? A Co-Twin Control Study of Spanish Twins.

    Science.gov (United States)

    Fernandez, Matt; Ordoñana, Juan R; Hartvigsen, Jan; Ferreira, Manuela L; Refshauge, Kathryn M; Sánchez-Romera, Juan F; Pinheiro, Marina B; Simpson, Stephen J; Hopper, John L; Ferreira, Paulo H

    2016-01-01

    To investigate the chronic low back pain and coronary heart disease relationship, after adjusting for relevant confounders, including genetics. In a cross-sectional design, 2148 twins were recruited from the Murcia Twin Registry, Spain. The exposure was chronic LBP and the outcomes were myocardial infarction and other coronary heart diseases-lifetime and in the last 2 years-based on standardized health-related questionnaires. First, logistic regression analysis investigated associations of the total sample followed by a matched co-twin control analyses, with all complete twin pairs discordant for chronic LBP utilised, separated for zygosity-dizygotic (DZ) and monozygotic (MZ) pairs, which adjusted for shared familial factors, including genetics. Chronic LBP pain is associated with lifetime myocardial infarction [odds ratio (OR) = 2.69, 95% confidence interval (CI) = 1.35-5.36], other coronary heart diseases over a lifetime (OR = 2.58, 95% CI: 1.69-3.93) and in the last two years (OR = 2.19, 95% CI: 1.33-3.60), while there was a borderline association with myocardial infarction in the last 2 years (OR = 2.64, 95% CI: 0.98-7.12). Although the magnitude of the association remained or increased in the co-twin control analyses, none reached statistical significance. Chronic LBP is associated with a higher prevalence of myocardial infarction and coronary heart disease. It is possible that this association remains even when controlling for genetics and early shared environment, although this should be investigated with larger samples of twins discordant for LBP.

  5. Is Chronic Low Back Pain Associated with the Prevalence of Coronary Heart Disease when Genetic Susceptibility Is Considered? A Co-Twin Control Study of Spanish Twins

    Science.gov (United States)

    Fernandez, Matt; Ordoñana, Juan R.; Hartvigsen, Jan; Ferreira, Manuela L.; Refshauge, Kathryn M.; Sánchez-Romera, Juan F.; Pinheiro, Marina B.; Simpson, Stephen J.; Hopper, John L.; Ferreira, Paulo H.

    2016-01-01

    Objective To investigate the chronic low back pain and coronary heart disease relationship, after adjusting for relevant confounders, including genetics. Methods In a cross-sectional design, 2148 twins were recruited from the Murcia Twin Registry, Spain. The exposure was chronic LBP and the outcomes were myocardial infarction and other coronary heart diseases—lifetime and in the last 2 years–based on standardized health-related questionnaires. First, logistic regression analysis investigated associations of the total sample followed by a matched co-twin control analyses, with all complete twin pairs discordant for chronic LBP utilised, separated for zygosity—dizygotic (DZ) and monozygotic (MZ) pairs, which adjusted for shared familial factors, including genetics. Results Chronic LBP pain is associated with lifetime myocardial infarction [odds ratio (OR) = 2.69, 95% confidence interval (CI) = 1.35–5.36], other coronary heart diseases over a lifetime (OR = 2.58, 95% CI: 1.69–3.93) and in the last two years (OR = 2.19, 95% CI: 1.33–3.60), while there was a borderline association with myocardial infarction in the last 2 years (OR = 2.64, 95% CI: 0.98–7.12). Although the magnitude of the association remained or increased in the co-twin control analyses, none reached statistical significance. Conclusion Chronic LBP is associated with a higher prevalence of myocardial infarction and coronary heart disease. It is possible that this association remains even when controlling for genetics and early shared environment, although this should be investigated with larger samples of twins discordant for LBP. PMID:27171210

  6. Twin-twin Transfusion Syndrome with a Single Ectopic Kidney in a Twin Donor. Case Presentation

    Directory of Open Access Journals (Sweden)

    Gerardo Rogelio Robaina Castellanos

    2016-10-01

    Full Text Available Twin-twin Transfusion Syndrome presents more frequently in diamniotic monochromic twins. In advanced stages and without prenatal intervention, is associated to high rates of peri natal mortality and neurological sequel in the survivors. It is presented a case of a pair of twins with severe depression at birth in which it was diagnosed a Twin-twin Transfusion Syndrome, later confirmed with the presence of anemia in the donor twin and polycythemia in the receptor twin. Both twins had an unfavourable evolution with an early neonatal death. Necropsy findings were comparable with secondary damage to the syndrome, with the particularity that both had evidences of pulmonary infection and a renal malformation in the donor twin which is not included in the proper malformations of this syndrome. The objective of this work is to point out the essential elements for the diagnosis and antenatal treatment for this disease through the peculiarities of the presented case.

  7. Fullerton Virtual Twin Study.

    Science.gov (United States)

    Segal, Nancy L

    2006-12-01

    Virtual twins (VTs; same-age unrelated siblings reared together from early infancy) have been studied at California State University (CSU), Fullerton since 1991. The current sample includes over 130 pairs. Past and current research have research have focused on siblings' similarities and differences in general intelligence and body size. Future research in these areas will continue as new pairs continue to be identified. These studies will be supplemented by analyses of personality, social relations and adjustment using monozygotic (MZ) twins, dizygotic (DZ) twins, full siblings and friends, as well as new VTs, who have participated in Twins, Adoptees, Peers and Siblings (TAPS), a collaborative project conducted between CSU Fullerton and the University of San Francisco, from 2002 to 2006.

  8. The impact of laser surgery on angiogenic and anti-angiogenic factors in twin-twin transfusion syndrome: a prospective study().

    Science.gov (United States)

    Chon, Andrew H; Chavira, Emiliano R; Wilson, Melissa L; Ingles, Sue A; Llanes, Arlyn; Chmait, Ramen H

    2017-04-03

    To examine the effect of laser surgery on angiogenic and anti-angiogenic factors in patients with twin-twin transfusion syndrome (TTTS). Cases of TTTS and uncomplicated monochorionic diamniotic twin pregnancies between 16 and 26 weeks' gestation were prospectively enrolled into the study. Maternal blood samples were obtained to measure angiogenic factors (vascular endothelial growth factor-A [VEGF], placental-derived growth factor [PlGF], and endothelin) and anti-angiogenic factors (soluble fms-like tyrosine kinase (sFlt-1), soluble endoglin (sEng), and sFlt-1/PlGF ratio). For cases, these factors were measured at visit 1 (pre-operatively), visit 2 (postoperative day one), and visit 3 (at least 3 weeks after surgery). In controls, the factors were measured at visit 1 (enrollment) and visit 2 (at least 3 weeks later). Levels of angiogenic and anti-angiogenic factors between cases and controls were compared. At enrollment, the TTTS cases demonstrated an anti-angiogenic state with significantly higher sFlt-1, sEng, sFlt-1/PlGF ratio, and lower PlGF. Laser surgery, comparing visit 1-3, had a partial corrective effect on TTTS cases. sFlt-1 significantly decreased several weeks after surgery. The other factors (PlGF, endothelin, sFlt-1, sEng, and sFlt-1/PlGF ratio) were not statistically significantly different by visit 3. Laser surgery partially corrected the angiogenic profile in patients with TTTS.

  9. Craniofacial anomalies in twins.

    Science.gov (United States)

    Keusch, C F; Mulliken, J B; Kaplan, L C

    1991-01-01

    Studies of twins provide insight into the relative contribution of genetic and environmental factors in the causality of structural anomalies. Thirty-five affected twin pairs were identified from a group of 1114 patients with congenital craniofacial deformities evaluated from 1972 to 1989. Forty-three of these 70 twins exhibited one or more craniofacial anomalies; these were analyzed for dysmorphic characteristics, zygosity, concordance, and family history. The anomalies were categorized into two groups: malformations and deformations. The malformations (n = 36) included hemifacial microsomia (n = 10), cleft lip and palate (n = 8), cleft palate (n = 4), rare facial cleft (n = 2), craniosynostosis (n = 2), Binder syndrome (n = 2), Treacher Collins syndrome (n = 2), craniopagus (n = 2), CHARGE association (n = 1), frontonasal dysplasia (n = 2), and constricted ears (n = 1). The deformations (n = 7) included plagiocephaly (n = 5), hemifacial hypoplasia (n = 1), and micrognathia (n = 1). Twenty-one monozygotic and 14 dizygotic twin pairs were identified. The concordance rate was 33 percent for monozygotic twins and 7 percent for dizygotic twins.(ABSTRACT TRUNCATED AT 250 WORDS)

  10. The role of quantum discord in quantum information theory

    Energy Technology Data Exchange (ETDEWEB)

    Streltsov, Alexander [ICFO - The Institute of Photonic Sciences, Castelldefels (Spain)

    2014-07-01

    Quantum correlations beyond entanglement - in particular represented by quantum discord - have become a major research field in the last few years. In this talk we report on the role of quantum discord in several fundamental tasks in quantum information theory. Starting with the role of quantum discord in the quantum measurement process, we also discuss its role in the tasks of information sharing and entanglement distribution. Finally, we also show the limits of these results and present possible ways to go beyond these limits.

  11. Discord as a quantum resource for bi-partite communication

    Energy Technology Data Exchange (ETDEWEB)

    Chrzanowski, Helen M.; Assad, Syed M.; Symul, Thomas; Lam, Ping Koy [Centre for Quantum Computation and Communication Technology, Department of Quantum Science, The Australian National University (Australia); Gu, Mile; Modi, Kavan; Vedral, Vlatko [Centre for Quantum Technologies, National University of Singapore (Singapore); Ralph, Timothy C. [Centre for Quantum Computation and Communication Technology, Department of Physics, University of Queensland (Australia)

    2014-12-04

    Coherent interactions that generate negligible entanglement can still exhibit unique quantum behaviour. This observation has motivated a search beyond entanglement for a complete description of all quantum correlations. Quantum discord is a promising candidate. Here, we experimentally demonstrate that under certain measurement constraints, discord between bipartite systems can be consumed to encode information that can only be accessed by coherent quantum interactions. The inability to access this information by any other means allows us to use discord to directly quantify this ‘quantum advantage’.

  12. Twin delivery: how should the second twin be delivered?

    Science.gov (United States)

    Olofsson, P; Rydhström, H

    1985-11-01

    In a series of 803 pairs of twins born between 1973 and 1982, 0.33% of second twins were delivered by cesarean section after vaginal delivery of the first twin. During the last year the frequency has increased to 7%, calling attention to the problem of declining obstetric skills and experience. This has caused us to update the routines of intrapartum management of twin gestations. In the present program only commonly available obstetric techniques are used. The potentially hazardous twin delivery is excluded from a trial of vaginal delivery. Hopefully, the program will help other obstetricians to decide in favor of vaginal delivery in selected twin gestations.

  13. Genes and Memory: The Neuroanatomical Correlates of Emotional Memory in Monozygotic Twin Discordant for Schizophrenia

    Science.gov (United States)

    Fahim, Cherine; Stip, Emmanuel; Mancini-Marie, Adham; Beauregard, Mario

    2004-01-01

    Background: Brain morphology and physiological measures in schizophrenia have yielded inconsistent results. This may be due in part to difficulties in ascertaining precisely to what degree each measure deviates from its genetically and environmentally determined potential level. We attempted to surmount this problem in a paradigm involving…

  14. Dermatoglyphics in relation to brain volumes in twins concordant and discordant for bipolar disorder

    NARCIS (Netherlands)

    Vonk, R.; van der Schot, A. C.; van Baal, G. C. M.; van Oel, C. J.; Nolen, W. A.; Kahn, R. S.

    2014-01-01

    Palmar and finger dermatoglyphics are formed between the 10th and the 17th weeks of gestation and their morphology can be influenced by genetic or environmental factors, interfering with normal intrauterine development. As both the skin and the brain develop from the same embryonal ectoderm, dermato

  15. Gut DNA viromes of Malawian twins discordant for severe acute malnutrition

    Science.gov (United States)

    The bacterial component of the human gut microbiota undergoes a definable program of postnatal development. Evidence is accumulating that this program is disrupted in children with severe acute malnutrition (SAM) and that their persistent gut microbiota immaturity, which is not durably repaired with...

  16. Two cases of the caudal duplication anomaly including a discordant monozygotic twin

    NARCIS (Netherlands)

    Kroes, HY; Takahashi, M; Zijlstra, RJ; Baert, JALL; Kooi, KA; Hofstra, RMW; van Essen, AJ

    2002-01-01

    We present two unrelated patients with various duplications in the caudal region. One patient presented with a duplication of the distal spine from L4, left double ureter, duplication of the vagina and cervix, and duplication of the distal colon. The second patient was diagnosed with a duplication

  17. A Discordant Monozygotic Twin Design Shows Blunted Cortisol Reactivity among Bullied Children

    Science.gov (United States)

    Ouellet-Morin, Isabelle; Danese, Andrea; Bowes, Lucy; Shakoor, Sania; Ambler, Antony; Pariante, Carmine M.; Papadopoulos, Andrew S.; Caspi, Avshalom; Moffitt, Terrie E.; Arseneault, Louise

    2011-01-01

    Objective: Childhood adverse experiences are known to engender persistent changes in stress-related systems and brain structures involved in mood, cognition, and behavior in animal models. Uncertainty remains about the causal effect of early stressful experiences on physiological response to stress in human beings, as the impact of these…

  18. Whole blood BDNF levels in healthy twins discordant for affective disorder

    DEFF Research Database (Denmark)

    Trajkovska, Viktorija; Vinberg, Maj; Aznar, Susana

    2008-01-01

    and protected against affective disorder. Whole blood assessed for BDNF concentrations and correlated to risk status, neuroticism, and number of stressful life events. RESULTS: Between the groups, we found no significant difference in whole blood BDNF levels. Women at high-risk for depression who had...... neuroticism scores and two or less recent stressful events were associated with decreased whole blood BDNF levels (n=50, p

  19. Whole genome and exome sequencing of monozygotic twins discordant for Crohn?s disease

    National Research Council Canada - National Science Library

    Petersen, Britt-Sabina; Spehlmann, Martina E; Raedler, Andreas; Stade, Bj?rn; Thomsen, Ingo; Rabionet, Raquel; Rosenstiel, Philip; Schreiber, Stefan; Franke, Andre

    2014-01-01

    .... We aimed to test if somatic mutations play a role in CD etiology by sequencing the genomes and exomes of directly affected tissue from the bowel and blood samples of one and the blood-derived exomes...

  20. Whole genome and exome sequencing of monozygotic twins discordant for Crohn's disease

    National Research Council Canada - National Science Library

    Petersen, Britt-Sabina; Spehlmann, Martina E; Raedler, Andreas; Stade, Björn; Thomsen, Ingo; Rabionet, Raquel; Rosenstiel, Philip; Schreiber, Stefan; Franke, Andre

    2014-01-01

    .... We aimed to test if somatic mutations play a role in CD etiology by sequencing the genomes and exomes of directly affected tissue from the bowel and blood samples of one and the blood-derived exomes...

  1. Brain activation during cognitive planning in twins discordant or concordant for obsessive–compulsive symptoms

    OpenAIRE

    den Braber, Anouk; van ’t Ent, Dennis; Cath, Danielle C.; Wagner, Judith; Boomsma, Dorret I; de Geus, Eco J C

    2010-01-01

    Neuroimaging studies have indicated abnormalities in cortico-striatal-thalamo-cortical circuits in patients with obsessive–compulsive disorder compared with controls. However, there are inconsistencies between studies regarding the exact set of brain structures involved and the direction of anatomical and functional changes. These inconsistencies may reflect the differential impact of environmental and genetic risk factors for obsessive–compulsive disorder on different parts of the brain. To ...

  2. Two cases of the caudal duplication anomaly including a discordant monozygotic twin

    NARCIS (Netherlands)

    Kroes, HY; Takahashi, M; Zijlstra, RJ; Baert, JALL; Kooi, KA; Hofstra, RMW; van Essen, AJ

    2002-01-01

    We present two unrelated patients with various duplications in the caudal region. One patient presented with a duplication of the distal spine from L4, left double ureter, duplication of the vagina and cervix, and duplication of the distal colon. The second patient was diagnosed with a duplication o

  3. Testing the face shape hypothesis in twins discordant for nonsyndromic orofacial clefting

    DEFF Research Database (Denmark)

    Roosenboom, Jasmien; Indencleef, Karlijne; Hens, Greet

    2017-01-01

    Nonsyndromic orofacial clefts (OFCs) are complex traits characterized by multifactorial inheritance and wide phenotypic variability. Numerous studies have shown subtle differences in the faces of unaffected relatives from cleft families compared to controls, the implication being that such outward...

  4. Phenotypic discordance in a family with monozygotic twins and non-syndromic cleft lip and palate

    Energy Technology Data Exchange (ETDEWEB)

    Wyszynski, D.F. [Johns Hopkins Univ., Baltimore, MD (United States)]|[National Center for Human Genome Research, Bethesda, MD (United States); Lewanda, A.F. [Johnson Hopkins Hospital, Baltimore, MD (United States)]|[Children`s National Medical Center, Washington, DC (United States); Beaty, T.H. [Johns Hopkins Univ., Balitomre, MD (United States)

    1996-12-30

    Despite considerable research, the cause of non-syndromic cleft lip with or without cleft palate (NSCLP) is still an enigma. Case-control and cohort studies have searched for environmental factors that might influence the development of this common malformation, such as maternal cigarette smoking, periconceptional supplementation of folic acid and multivitamins, agricultural chemical use, and place of residence, among others. However, these studies are subject to numerous biases, and their results have often been contradictory and inconclusive. 41 refs., 1 fig.

  5. Risk factors for asthma in young adults: a co-twin control study

    DEFF Research Database (Denmark)

    Thomsen, SF; Ulrik, Charlotte Suppli; Kyvik, KO;

    2006-01-01

    . Pairs in which only one twin developed asthma -- discordant pairs -- were identified and conditional logistic regression was applied to detect effects of risk factors. RESULTS: A total of 126 monozygotic (MZ) and 273 dizygotic (DZ) discordant twin pairs were identified. In MZ twins hay fever (OR = 3.......16, 95% CI: 1.29-7.73, P = 0.007) and exercise (OR for inactivity = 0.35, 95% CI: 0.13-0.91, P = 0.023) were significantly associated with asthma, whereas in DZ twins, hay fever (OR = 2.44, 95% CI: 1.44-4.13, P = 0.001), eczema (OR = 1.96, 95% CI: 1.02-3.78, P = 0.040), female sex (OR between males...... and females = 0.54, 95% CI: 0.36-0.80, P = 0.002), and increasing levels of body mass index (BMI; OR per unit = 1.11, 95% CI: 1.02-1.20, P = 0.009) were significant predictors of asthma. CONCLUSIONS: Hay fever, eczema, female sex, exercise and increasing levels of BMI were risk factors for asthma in young...

  6. Experiences of stigma and discrimination among HIV-discordant ...

    African Journals Online (AJOL)

    Laetitia C. Rispel

    2015-03-17

    Mar 17, 2015 ... Consent forms and measuring instruments were developed in .... default ... so they keep a watchful eye. We still battle to ..... (2008). Regional Differences in Prevalence of HIV-1 Discordance .... Psychology, Health & Medicine,.

  7. Mechanism of Discordant Alternans in Spatially Homogenoeus Tissue

    CERN Document Server

    Watanabe, M; Evans, S J; Hastings, H; Karma, A; Watanabe, Mari A.; Fenton, Flavio H; Evans, Steven J.; Hastings, Harold; Karma, Alain

    2000-01-01

    Discordant alternans,the phenomenon of 2 separate cardiac tissue locations exhibiting action potential duration (APD) alternans of opposite phase, appears to be a potential mechanism for electrocardiographic T wave alternans, but its initiation mechanism is unknown. We studied behavior of one- and two- dimensional cardiac tissue spatially homogenous in all respects, including APD restitution and conduction velocity restitution, using the Beeler Reuter ion channel model. We found that discordant alternans was initiated when spatial gradients of APD arose dynamically, such as from fixed rate pacing of a cable end (sinus node scenario), or from fixed rate pacing at one site preceded by a single excitation wavefront from another site (ectopic focus scenario). In the sinus node scenario, conduction velocity restitution was necessary to initiate discordant alternans. Alternating regimes of concordant and discordant alternans arose along the length of the cable, with regimes delimited by nodes of fixed APD. The numb...

  8. Classicality from zero discord for continuous-variables bipartite systems

    CERN Document Server

    Arsenijevic, M; Dugic, M

    2012-01-01

    Quantum information resources quantified by non-zero discord are ubiquitous for the continuous-variables bipartite systems. Complementary to this, we investigate the zero-discord-defined classicality for the different structures (decompositions into subsystems) of such systems. We point out complexity and subtlety of the task and we construct a model-structure closely resembling the classical systems not supporting quantum information processing.

  9. Somatosensory Brain Function and Gray Matter Regional Volumes Differ According to Exercise History: Evidence from Monozygotic Twins.

    Science.gov (United States)

    Hautasaari, Pekka; Savić, Andrej M; Loberg, Otto; Niskanen, Eini; Kaprio, Jaakko; Kujala, Urho M; Tarkka, Ina M

    2017-01-01

    Associations between long-term physical activity and cortical function and brain structure are poorly known. Our aim was to assess whether brain functional and/or structural modulation associated with long-term physical activity is detectable using a discordant monozygotic male twin pair design. Nine monozygotic male twin pairs were carefully selected for an intrapair difference in their leisure-time physical activity of at least three years duration (mean age 34 ± 1 years). We registered somatosensory mismatch response (SMMR) in EEG to electrical stimulation of fingers and whole brain MR images. We obtained exercise history and measured physical fitness and body composition. Equivalent electrical dipole sources of SMMR as well as gray matter (GM) voxel counts in regions of interest indicated by source analysis were evaluated. SMMR dipolar source strengths differed between active and inactive twins within twin pairs in postcentral gyrus, medial frontal gyrus and superior temporal gyrus and in anterior cingulate (AC) GM voxel counts differed similarly. Compared to active twins, their inactive twin brothers showed greater dipole strengths in short periods of the deviant-elicited SMMR and larger AC GM voxel counts. Stronger activation in early unattended cortical processing of the deviant sensory signals in inactive co-twins may imply less effective gating of somatosensory information in inactive twins compared to their active brothers. Present findings indicate that already in 30's long-term physical activity pattern is linked with specific brain indices, both in functional and structural domains.

  10. Total lymphoid irradiation and discordant cardiac xenografts

    Energy Technology Data Exchange (ETDEWEB)

    Kaplan, E.; Dresdale, A.R.; Diehl, J.T.; Katzen, N.A.; Aronovitz, M.J.; Konstam, M.A.; Payne, D.D.; Cleveland, R.J. (Tufts Univ. School of Medicine, Boston, MA (USA))

    1990-01-01

    Total lymphoid irradiation can prolong concordant cardiac xenografts. The effects of total lymphoid irradiation in a discordant xenograft model (guinea pig to rat) were studied with and without adjuvant pharmacologic immunosuppression. Inbred Lewis rats were randomly allocated to one of four groups. Group 1 (n = 6) served as a control group and rats received no immunosuppression. Group 2 (n = 5) received triple-drug therapy that consisted of intraperitoneal azathioprine (2 mg/kg), cyclosporine (20 mg/kg), and methylprednisolone (1 mg/kg) for 1 week before transplantation. Group 3 animals (n = 5) received 15 Gy of total lymphoid irradiation in 12 divided doses over a 3-week period. Group 4 (n = 6) received both triple-drug therapy and total lymphoid irradiation as described for groups 2 and 3. Complement-dependent cytotoxicity assay was performed to determine if a correlation between complement-dependent cytotoxicity and rejection-free interval existed. Rejection was defined as cessation of graft pulsation and was confirmed by histologic test results. Only groups 1 and 2 showed a difference in survival (group 1, 6.9 +/- 1.0 minutes; group 2, 14.2 +/- 2.7 minutes, p = 0.02). Although total lymphoid irradiation did decrease complement-dependent cytotoxicity, linear regression revealed no correlation between complement-dependent cytotoxicity and graft survival (coefficient of correlation, 0.30). Unlike concordant cardiac xenografts, total lymphoid irradiation with or without triple-drug therapy does not prolong graft survival.

  11. Exercise — Exploring Mutuality and Discordance(s Between Sport and Public Health

    Directory of Open Access Journals (Sweden)

    Eling D. de Bruin

    2013-01-01

    Full Text Available Sports is a peer-reviewed scientific journal that revolves around the interdisciplinary area of exercise sciences applied in sport and public health. The intention of Sports is to link several scientific disciplines in an integrated fashion in order to address critical issues related to exercise science, sports and public health. As the first Editor-in-Chief of Sports, I would like to share a few comments about this interdisciplinary field of research by discussing the mutuality and discordances between exercise as it is applied in sports and public health.

  12. The Texas Twin Project.

    Science.gov (United States)

    Harden, K Paige; Tucker-Drob, Elliot M; Tackett, Jennifer L

    2013-02-01

    Socioeconomic position, racial/ethnic minority status, and other characteristics of the macro-environment may be important moderators of genetic influence on a wide array of psychosocial outcomes. Designed to maximize representation of low socioeconomic status families and racial/ethnic minorities, the Texas Twin Project is an ongoing study of school-age twins (preschool through 12th grade) enrolled in public schools in the Austin, Texas and Houston, Texas metropolitan areas. School rosters are used to identify twin families from a target population with sizable populations of African American (18%), Hispanic/Latino (48%), and non-Hispanic White (27%) children and adolescents, over half of whom meet US guidelines for classification as economically disadvantaged. Initial efforts have focused on a large-scale, family-based survey study involving both parent and child reports of personality, psychopathology, physical health, academic interests, parent-child relationships, and aspects of the home environment. In addition, the Texas Twin Project is the basis for an in-laboratory study of adolescent decision-making, delinquency, and substance use. Future directions include geographic expansion of the sample to the entire state of Texas (with a population of over 25 million) and genotyping of participating twins.

  13. Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation.

    Science.gov (United States)

    Urbizu, Aintzane; Cuenca-León, Ester; Raspall-Chaure, Miquel; Gratacòs, Margarida; Conill, Joan; Redecillas, Susana; Roig-Quilis, Manuel; Macaya, Alfons

    2010-08-15

    We report two monochorionic twins that progressively developed, between ages 5 and 10, a combination of episodic neurological disorders including paroxysmal exercise-induced dyskinesia, migraine without or with aura, absence seizures and writer's cramp. CSF/serum glucose ratio was moderately decreased in both patients. Mutational analysis of SLC2A1 gene identified a de novo heterozygous missense mutation in exon 4. This novel mutation has been previously showed to disrupt glucose transport in vitro. Both patients showed immediate and near-complete response to ketogenic diet. This clinical observation suggests that a high index of suspicion for GLUT1 deficiency syndrome is warranted in evaluating patients with multiple neurological paroxysmal events.

  14. Hypoalbuminemia in Donors with Twin-Twin Transfusion Syndrome

    NARCIS (Netherlands)

    Verbeek, L.; Middeldorp, J. M.; Hulzebos, C. V.; Oepkes, D.; Walther, F. J.; Lopriore, E.

    2013-01-01

    Objective: To estimate the differences in albumin levels between donors and recipients with twin-twin transfusion syndrome (TTTS). Methods: We performed a matched case-control study including twin pairs with TTTS treated conservatively (conservative group) or with fetoscopic laser surgery (laser gro

  15. Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.

    Science.gov (United States)

    De Gregorio, Laura; Jinnah, H A; Harris, James C; Nyhan, William L; Schretlen, David J; Trombley, Lucy M; O'Neill, J Patrick

    2005-05-01

    Lesch-Nyhan disease (LND) is an inborn error of purine metabolism caused by defective activity of the enzyme hypoxanthine guanine phosphoribosyl transferase (HPRT, EC 2.4.2.8), resulting from mutation in the corresponding gene on the long arm of the X chromosome (Xq26). The classic phenotype occurs almost exclusively in males and is characterized by hyperuricemia, mental retardation, severe dystonia, and self-injurious behavior. Heterozygous carrier females are usually clinically normal. However, a small number of clinically affected females have been described. In all previous cases there was a mutation in one HPRT allele and non-random inactivation of the X chromosome carrying the normal HPRT gene. We have analyzed a female MZ twin pair discordant for Lesch-Nyhan disease. The mother and both twins are heterozygous carriers of a HPRT splicing mutation (IVS8 + 4A > G; c.609 + 4A > G) and all three express the mutant allele at similar frequencies in peripheral blood T cells. The mother and one sister are clinically normal. In the affected twin, the clinical phenotype is classical for Lesch-Nyhan disease, despite the fact that HPRT activity in the blood was also normal. X inactivation analysis showed a skewed pattern in the fibroblasts of the affected twin sister, with the X chromosome carrying the normal HPRT allele preferentially inactivated. As in many other reported cases of X-linked diseases, the discordant phenotype of the two monozygous twin sisters suggests that the process responsible for monozygotic twinning can trigger skewed X inactivation.

  16. DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins.

    Directory of Open Access Journals (Sweden)

    M Reza Sailani

    Full Text Available DNA methylation is essential in mammalian development. We have hypothesized that methylation differences induced by trisomy 21 (T21 contribute to the phenotypic characteristics and heterogeneity in Down syndrome (DS. In order to determine the methylation differences in T21 without interference of the interindividual genomic variation, we have used fetal skin fibroblasts from monozygotic (MZ twins discordant for T21. We also used skin fibroblasts from MZ twins concordant for T21, normal MZ twins without T21, and unrelated normal and T21 individuals. Reduced Representation Bisulfite Sequencing (RRBS revealed 35 differentially methylated promoter regions (DMRs (Absolute methylation differences = 25%, FDR < 0.001 in MZ twins discordant for T21 that have also been observed in comparison between unrelated normal and T21 individuals. The identified DMRs are enriched for genes involved in embryonic organ morphogenesis (FDR = 1.60 e -03 and include genes of the HOXB and HOXD clusters. These DMRs are maintained in iPS cells generated from this twin pair and are correlated with the gene expression changes. We have also observed an increase in DNA methylation level in the T21 methylome compared to the normal euploid methylome. This observation is concordant with the up regulation of DNA methyltransferase enzymes (DNMT3B and DNMT3L and down regulation of DNA demethylation enzymes (TET2 and TET3 observed in the iPSC of the T21 versus normal twin. Altogether, the results of this study highlight the epigenetic effects of the extra chromosome 21 in T21 on loci outside of this chromosome that are relevant to DS associated phenotypes.

  17. Twin and family studies reveal strong environmental and weaker genetic cues explaining heritability of eosinophilic esophagitis.

    Science.gov (United States)

    Alexander, Eileen S; Martin, Lisa J; Collins, Margaret H; Kottyan, Leah C; Sucharew, Heidi; He, Hua; Mukkada, Vincent A; Succop, Paul A; Abonia, J Pablo; Foote, Heather; Eby, Michael D; Grotjan, Tommie M; Greenler, Alexandria J; Dellon, Evan S; Demain, Jeffrey G; Furuta, Glenn T; Gurian, Larry E; Harley, John B; Hopp, Russell J; Kagalwalla, Amir; Kaul, Ajay; Nadeau, Kari C; Noel, Richard J; Putnam, Philip E; von Tiehl, Karl F; Rothenberg, Marc E

    2014-11-01

    Eosinophilic esophagitis (EoE) is a chronic antigen-driven allergic inflammatory disease, likely involving the interplay of genetic and environmental factors, yet their respective contributions to heritability are unknown. To quantify the risk associated with genes and environment on familial clustering of EoE. Family history was obtained from a hospital-based cohort of 914 EoE probands (n = 2192 first-degree "Nuclear-Family" relatives) and an international registry of monozygotic and dizygotic twins/triplets (n = 63 EoE "Twins" probands). Frequencies, recurrence risk ratios (RRRs), heritability, and twin concordance were estimated. Environmental exposures were preliminarily examined. Analysis of the Nuclear-Family-based cohort revealed that the rate of EoE, in first-degree relatives of a proband, was 1.8% (unadjusted) and 2.3% (sex-adjusted). RRRs ranged from 10 to 64, depending on the family relationship, and were higher in brothers (64.0; P = .04), fathers (42.9; P = .004), and males (50.7; P Twins cohort, genetic heritability was 14.5% ± 4.0% (P twins was 57.9% ± 9.5% compared with 36.4% ± 9.3% in dizygotic co-twins (P = .11). Greater birth weight difference between twins (P = .01), breast-feeding (P = .15), and fall birth season (P = .02) were associated with twin discordance in disease status. EoE RRRs are increased 10- to 64-fold compared with the general population. EoE in relatives is 1.8% to 2.4%, depending on relationship and sex. Nuclear-Family heritability appeared to be high (72.0%). However, the Twins cohort analysis revealed a powerful role for common environment (81.0%) compared with additive genetic heritability (14.5%). Copyright © 2014 American Academy of Allergy, Asthma & Immunology. All rights reserved.

  18. Reappraisal of twinning: epidemiology and outcome in the early neonatal period

    Science.gov (United States)

    Gupta, Priyanka; Faridi, Mohammad Moonis Akbar; Goel, Neerja; Zaidi, Zeashan

    2014-01-01

    INTRODUCTION The present study aimed to determine the epidemiology, maternal complications and adverse neonatal outcomes associated with twin births at a tertiary care hospital in India. METHODS A prospective observational study was conducted on all successively born twin pairs (≥ 23 weeks of gestation) and their mothers from January to September 2005. Main outcome measures included maternal medical/obstetric complications, labour characteristics and the morbidities/mortality observed during the early neonatal period. RESULTS The twinning rate was 1 in 54 deliveries. Around 10% of mothers had a predisposition for twinning in the form of familial tendency or consumption of clomiphene. Anaemia (85%) was the most common maternal complication, followed by gestational hypertension (17%). Nearly one-third of births were delivered via Caesarean section. Prematurity (61%) was the most common neonatal complication followed by early-onset neonatal sepsis (21%). The risk of early neonatal death was 27%. Shorter gestation and low birth weight were significantly associated with adverse neonatal outcome (p delivery time interval, gender and intra-pair birth weight discordance did not affect neonatal morbidity or mortality (p ≥ 0.05). CONCLUSION The rates of maternal complications and early neonatal morbidities/mortality were quite high in twin gestations. Except for the prematurity and low birth weight, none of the other factors, including inter-twin delivery time interval of more than 15 mins, were found to affect neonatal outcome. PMID:25017406

  19. Dialysis for twins

    DEFF Research Database (Denmark)

    Gramkow, Ann-Maria; Aarup, Michael; Andersen, L. L. T.

    2014-01-01

    A 32-year-old woman with known stage-4 chronic kidney disease due to lupus nephritis presented with twin pregnancy after in vitro fertilization at a gestational age of 24 weeks + 3 days because of imminent preterm labour. Repeated ultrasound evaluations confirmed intrauterine growth restriction...... in both twins and polyhydramnios as the cause of imminent preterm labour. After initiation of haemodialysis treatment, ultrasound evaluation showed a significant decrease in amniotic fluids, and also reduction in blood urea nitrogen and in clinical complaints could be observed. At a gestational age of 28...... weeks + 4 days, delivery was performed by Caesarean section. This case study shows that effective treatment of elevated uraemic toxins significantly reduced the morbidity risks of the twins....

  20. The Danish Twin Registry

    DEFF Research Database (Denmark)

    Skytthe, Axel; Christiansen, Lene; Kyvik, Kirsten Ohm;

    2013-01-01

    decade of combining questionnaire and survey data with national demographic, social, and health registers in Statistics Denmark. Second, we describe our most recent data collection effort, which was conducted during the period 2008-2011 and included both in-person assessments of 14,000+ twins born 1931......Over the last 60 years, the resources and the research in the Danish Twin Registry (DTR) have periodically been summarized. Here, we give a short overview of the DTR and a more comprehensive description of new developments in the twenty-first century. First, we outline our experience over the last......-1969 and sampling of biological material, hereby expanding and consolidating the DTR biobank. Third, two examples of intensively studied twin cohorts are given. The new developments in the DTR in the last decade have facilitated the ongoing research and laid the groundwork for new research directions....

  1. Maternal nutrition in twin pregnancy.

    Science.gov (United States)

    Campbell, D M; MacGillivray, I; Tuttle, S

    1982-01-01

    Energy and protein intake as measured by 24-hour urinary nitrogen values are similar in twin and singleton pregnancies. The relationship between urinary nitrogen and nitrogen intake is equally significant in twin and singleton pregnancies. Dietary zinc, copper, and iron are not different in women with twins, nor are the levels of these elements in plasma. These observations are surprising in view of the extra fetal demands on the mother and the different adaptation of twin pregnancies.

  2. Relativistic twins or sextuplets?

    CERN Document Server

    Sheldon, E S

    2003-01-01

    A recent study of the relativistic twin 'paradox' by Soni in this journal affirmed that 'A simple solution of the twin paradox also shows anomalous behaviour of rigidly connected distant clocks' but entailed a pedagogic hurdle which the present treatment aims to surmount. Two scenarios are presented: the first 'flight-plan' is akin to that depicted by Soni, with constant-velocity segments, while the second portrays an alternative mission undertaken with sustained acceleration and deceleration, illustrated quantitatively for a two-way spacecraft flight from Earth to Polaris (465.9 light years distant) and back.

  3. Imaging of conjoined twins

    Energy Technology Data Exchange (ETDEWEB)

    McHugh, Kieran [Great Ormond Street Hospital for Children, Department of Radiology, London (United Kingdom); Kiely, Edward M.; Spitz, Lewis [Great Ormond Street Hospital for Children, Department of Surgery, London (United Kingdom)

    2006-09-15

    The incidence of conjoined twins is estimated to be around 1 in 250,000 live births. There is a distinct female predominance. In this paper the imaging of conjoined twins both antenatally and postnatally is reviewed, in particular taking into consideration recent advances with multidetector CT. Accurate counselling of parents regarding the likely outcome of the pregnancy and the likelihood of successful separation is dependent on good prenatal imaging with ultrasound and MRI. Planning of postnatal surgical separation is aided by accurate preoperative imaging which, depending on the conjoined area, will encompass many imaging modalities, but often relies heavily on CT scanning. (orig.)

  4. The Twin Interdisciplinary Neuroticism Study

    NARCIS (Netherlands)

    Riese, Harriette; Rijsdijk, Fruehling V.; Snieder, Harold; Ormel, Johan

    The Twin Interdisciplinary Neuroticism Study (TWINS) is a three-wave study including >800 twin pairs from the northern part of the Netherlands. The aim of the study is to unravel why neuroticism reflects vulnerability to mental disorders. In this study, we focus on possible mechanisms underlying

  5. Microbiota conservation and BMI signatures in adult monozygotic twins.

    Science.gov (United States)

    Tims, Sebastian; Derom, Catherine; Jonkers, Daisy M; Vlietinck, Robert; Saris, Wim H; Kleerebezem, Michiel; de Vos, Willem M; Zoetendal, Erwin G

    2013-04-01

    The human gastrointestinal (GI) tract microbiota acts like a virtual organ and is suggested to be of great importance in human energy balance and weight control. This study included 40 monozygotic (MZ) twin pairs to investigate the influence of the human genotype on GI microbiota structure as well as microbial signatures for differences in body mass index (BMI). Phylogenetic microarraying based on 16S rRNA genes demonstrated that MZ twins have more similar microbiotas compared with unrelated subjects (Ptwins. Half of the twin pairs were selected on discordance in terms of BMI, which revealed an inverse correlation between Clostridium cluster IV diversity and BMI. Furthermore, relatives of Eubacterium ventriosum and Roseburia intestinalis were positively correlated to BMI differences, and relatives of Oscillospira guillermondii were negatively correlated to BMI differences. Lower BMI was associated with a more abundant network of primary fiber degraders, while a network of butyrate producers was more prominent in subjects with higher BMI. Combined with higher butyrate and valerate contents in the fecal matter of higher BMI subjects, the difference in microbial networks suggests a shift in fermentation patterns at the end of the colon, which could affect human energy homeostasis.

  6. Sexually transmitted infections among HIV-1-discordant couples.

    Directory of Open Access Journals (Sweden)

    Brandon L Guthrie

    Full Text Available INTRODUCTION: More new HIV-1 infections occur within stable HIV-1-discordant couples than in any other group in Africa, and sexually transmitted infections (STIs may increase transmission risk among discordant couples, accounting for a large proportion of new HIV-1 infections. Understanding correlates of STIs among discordant couples will aid in optimizing interventions to prevent HIV-1 transmission in these couples. METHODS: HIV-1-discordant couples in which HIV-1-infected partners were HSV-2-seropositive were tested for syphilis, chlamydia, gonorrhea, and trichomoniasis, and HIV-1-uninfected partners were tested for HSV-2. We assessed sociodemographic, behavioral, and biological correlates of a current STI. RESULTS: Of 416 couples enrolled, 16% were affected by a treatable STI, and among these both partners were infected in 17% of couples. A treatable STI was found in 46 (11% females and 30 (7% males. The most prevalent infections were trichomoniasis (5.9% and syphilis (2.6%. Participants were 5.9-fold more likely to have an STI if their partner had an STI (P<0.01, and STIs were more common among those reporting any unprotected sex (OR = 2.43; P<0.01 and those with low education (OR = 3.00; P<0.01. Among HIV-1-uninfected participants with an HSV-2-seropositive partner, females were significantly more likely to be HSV-2-seropositive than males (78% versus 50%, P<0.01. CONCLUSIONS: Treatable STIs were common among HIV-1-discordant couples and the majority of couples affected by an STI were discordant for the STI, with relatively high HSV-2 discordance. Awareness of STI correlates and treatment of both partners may reduce HIV-1 transmission. TRIAL REGISTRATION: ClinicalTrials.gov NCT00194519.

  7. 34 Cases of Twin Pregnancies Complicated by Single Intrautterine Death%双胎妊娠一胎宫内死亡34例临床分析

    Institute of Scientific and Technical Information of China (English)

    谯小勇; 曹曦; 邢爱耘

    2011-01-01

    目的:探讨双胎妊娠一胎宫内死亡的因为、临床处理及预后.方法:回顾性分析2005年1月至2009年12月,我院双胎妊娠一胎宫内死亡34例患者的临床资料.结果:双胎妊娠一胎宫内死亡占我院双胎妊娠的5.2%,34例中单羊膜囊双胎3例,单绒毛膜双胎23例,双绒毛膜双胎8例;及时终止妊娠23例(单羊膜囊双胎均及时终止妊娠),期待治疗11例,平均期待时间单绒毛膜双胎为4.7±5.6周,双绒毛膜双胎为8.6±1.2周;单绒毛膜双胎发现死胎时的孕周、分娩孕周及存活儿的出生体重均小于双绒毛膜双胎.除引产外的30例存活儿发生围生儿死亡6例,随访24例存活新生儿中,2例失访,22例随访中发生脑瘫(四肢瘫,语言障碍)3例,存在其他脑损害(语言或运动发育延迟)4例,余健康存活.结论:单绒毛膜双胎更易发生双胎妊娠一胎宫内死亡,绒毛膜性质和孕周是影响围生儿结局和远期预后的重要因素,存活儿无胎儿窘迫,孕妇无严重妊娠并发症及合并症情况下,期待治疗是一种有效的处理方式.%Objective: To study the causes, clinical management and prognosis of twin pregnancies complicated by single intrauterine death (slUD). Methods: Retrospective analysis was done in 34 cases of twin pregnancies complicated by slUD from January 2005 to December 2009 in West China Second University Hospital of Sichuan University. Results: The incidence rate of twin pregnancies complicated by slUD was 5. 2%. There were 3 monoamnionic twins, 23 monochorionic twins and 8 dichorionic twin pregnancies complicated by slUD respectively. Termination of the pregnancy timely in 23 cases including monoamnionic twins was done. The average expectant time of monochorionic and dichorionic twins were 4. 7 ± 5. 6 weeks and 8. 6 ± 1.2 weeks respectively in 11 cases receiving expectant treatment. The average gestational weeks of fetal death and delivery, birth weight of survivals for monochorionic twins

  8. Regional differences in prevalence of HIV-1 discordance in Africa and enrollment of HIV-1 discordant couples into an HIV-1 prevention trial.

    Directory of Open Access Journals (Sweden)

    Jairam R Lingappa

    Full Text Available BACKGROUND: Most HIV-1 transmission in Africa occurs among HIV-1-discordant couples (one partner HIV-1 infected and one uninfected who are unaware of their discordant HIV-1 serostatus. Given the high HIV-1 incidence among HIV-1 discordant couples and to assess efficacy of interventions for reducing HIV-1 transmission, HIV-1 discordant couples represent a critical target population for HIV-1 prevention interventions and prevention trials. Substantial regional differences exist in HIV-1 prevalence in Africa, but regional differences in HIV-1 discordance among African couples, has not previously been reported. METHODOLOGY/PRINCIPAL FINDINGS: The Partners in Prevention HSV-2/HIV-1 Transmission Trial ("Partners HSV-2 Study", the first large HIV-1 prevention trial in Africa involving HIV-1 discordant couples, completed enrollment in May 2007. Partners HSV-2 Study recruitment data from 12 sites from East and Southern Africa were used to assess HIV-1 discordance among couples accessing couples HIV-1 counseling and testing, and to correlate with enrollment of HIV-1 discordant couples. HIV-1 discordance at Partners HSV-2 Study sites ranged from 8-31% of couples tested from the community. Across all study sites and, among all couples with one HIV-1 infected partner, almost half (49% of couples were HIV-1 discordant. Site-specific monthly enrollment of HIV-1 discordant couples into the clinical trial was not directly associated with prevalence of HIV-1 discordance, but was modestly correlated with national HIV-1 counseling and testing rates and access to palliative care/basic health care (r = 0.74, p = 0.09. CONCLUSIONS/SIGNIFICANCE: HIV-1 discordant couples are a critical target for HIV-1 prevention in Africa. In addition to community prevalence of HIV-1 discordance, national infrastructure for HIV-1 testing and healthcare delivery and effective community outreach strategies impact recruitment of HIV-1 discordant couples into HIV-1 prevention trials.

  9. Identical Twins Raised Apart

    Science.gov (United States)

    Farnsworth, David L.

    2015-01-01

    This article describes a bivariate data set that is interesting to students. Indeed, this particular data set, which involves twins and IQ, has sparked more student interest than any other set that I have presented. Specific uses of the data set are presented.

  10. Sleep Terrors in Twins

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2008-12-01

    Full Text Available In an attempt to clarify the genetic and environmental causes of sleep terrors in childhood, reasearchers in Canada followed 390 pairs of monozygotic and dizygotic twins by assessing the frequency of sleep terrors at 18 and 30 months of age using a questionnaire administered to the biological mothers.

  11. Twin Hub Network (poster)

    NARCIS (Netherlands)

    Kreutzberger, E.D.; Konings, J.W.

    2014-01-01

    Twin hub network, a European Interreg IVB project, aims at making intermodal rail transport within, to and from North West Europe more competitive, in particular between seaports and inland terminals. Improving rail competitiveness enables to shift freight flows from road to rail, providing a more s

  12. Amelia in Twin Pregnancy

    Directory of Open Access Journals (Sweden)

    Davari Tanha Fatemeh

    2009-04-01

    Full Text Available Limb bud first appears during the third week of gestation with the upper limb buds appearing a few days before the lower limb buds. Complete absence of one or more limbs, called Amelia, occurs prior to the eighth week of gestation. We report a case of Amelia in a twin gestation.

  13. TWIN BLOCK (Studi Pustaka

    Directory of Open Access Journals (Sweden)

    Evie Lamtiur

    2015-08-01

    Full Text Available Young patients with class II skeletal malocclusion are often found. To avoid further discrepancy of this case, myofunctional therapy is one of the options. Functional appliance often used for such treatment. Functional appliance has been modified since activator was introduced by Andresen. With its bulky shape, activator makes difficulty for patient to speak and eat. Patient unable to wear it full time due to uncomfortness and negative facial appearance. In 1977, Clark developed twin block to overcome the weakness of previous appliances. A more simple design allows patient to be more comfortable and willing to wear it longer. Twin block is myofunctional appliance to reposition the mandible forward for skeletal class II correction with retruded mandible. This paper describes the design, clinical management effects of twin block treatment and brief case presentation using twin block appliance. Similar to the study reports found, this case revealed improvement of facial appearance, decrease overjet and overbite, improvement of molar relationship and good compliance of patient.

  14. Clinic observation on effecting of chorionic nature in twin pregnancy on pregnancy complications and perinatal outcome%双胎妊娠绒毛膜性质对孕妇妊娠期并发症及围生儿预后的影响

    Institute of Scientific and Technical Information of China (English)

    袁秀红

    2014-01-01

    Objective :To investigate the effects with chorionic nature in twin pregnancy and pregnancy complications .Methods :102 cases with twins were retrospectively analyzed .According to chorionic nature ,cases were divided into two groups :observation group (monochorionic) and control group (double chorion) .Results :There were no difference in gestational hypertension ,intrahepatic cholestasis of pregnancy ,polyhydramnios ,prema-ture rupture of membranes and preterm birth rate between Observation group and control group .But compared with observation group ,the rat of neonatal asphyxia and perinatal mortality in control group was significantly higher . Conclusions :Compared with double chorion twin pregnancies ,monochorionic twin pregnancies has a higher risk .It should be accurately determine about the chorionic nature ,to improve the level of care in monochorionic twin preg-nancies .%目的:探讨双胎妊娠绒毛膜性质对孕妇妊娠期并发症及围生儿预后的影响。方法:选取定期产检并分娩的双胎产妇102例,根据双胎绒毛膜性质分为观察组(单绒毛膜)和对照组(双绒毛膜),分析两组孕妇妊娠期并发症发生率及围生儿预后情况。结果:观察组妊娠期高血压、妊娠期肝内胆汁淤积症、羊水过多、胎膜早破、早产发生率与对照组比较无明显差异。新生儿窒息发生率、围生儿病死率均显著高于对照组。结论:单绒毛膜双胎妊娠比双绒毛膜双胎妊娠对围生儿具有更高的危险,故在孕早期应及时对双胎妊娠孕妇的绒毛膜性质进行准确判断,提高对单绒毛膜双胎妊娠孕妇和胎儿的整体监护水平。

  15. Mitral valve regurgitation in twins

    DEFF Research Database (Denmark)

    Bakkestrøm, Rine; Larsen, Lisbeth Aagaard; Møller, Jacob Eifer

    2016-01-01

    BACKGROUND: Smaller observational studies have suggested familial clustering of mitral regurgitation (MR). Using a large twin cohort, the aims were to assess MR concordance rates and assess mortality in MR twins and unaffected cotwins. METHODS: Through the Danish Twin Registry, twins...... with an International Classification of Diseases, Eighth Revision and Tenth Revision diagnosis code of MR born 1880-1989 were identified and proband-wise concordance rates were calculated. To assess whether having a cotwin with MR affected survival, 10 matched twins without MR (n = 5,575) were selected for each MR twin...... (n = 562), and all-cause mortality rates were assessed. RESULTS: Among the 87,432 twins alive January 1, 1977, or later, 494 (0.57%) MR individuals were identified. Six MR concordant pairs were found, of which 3 were monozygotic. Proband-wise concordance rate when accounting for right censoring...

  16. Measuring DQC1 Quantum Discord using DQC1

    CERN Document Server

    Passante, G; Laflamme, R

    2012-01-01

    We describe an efficient DQC1-algorithm to quantify the amount of Geometric Quantum Discord present in the output state of a DQC1 computation. DQC1 is a model of computation that utilizes separable states to solve a problem with no known efficient classical algorithm and is known to contain quantum correlations as measured by the discord. For the general case of a (1+n)-qubit DQC1-state we provide an analytical expression for the Geometric Quantum Discord and find that its typical (and maximum) value decreases exponentially with n. This is in contrast to the standard Quantum Discord whose value for typical DQC1-states is known to be independent of n. We experimentally demonstrate the proposed algorithm on a four-qubit liquid-state nuclear magnetic resonance quantum information processor. In the special case of a two-qubit DQC1 model, we also provide an expression for the Quantum Discord that only requires the outcome of the DQC1 algorithm.

  17. Quantum discord for two-qubit X-states

    CERN Document Server

    Ali, Mazhar; Alber, Gernot

    2010-01-01

    Quantum discord, a kind of quantum correlation, is defined as the difference between quantum mutual information and classical correlation in a bipartite system. In general, this correlation is different from entanglement, and quantum discord may be nonzero even for certain separable states. Even in the simple case of bipartite quantum systems, this different kind of quantum correlation has interesting and significant applications in quantum information processing. So far, quantum discord has been calculated explicitly only for a rather limited set of two-qubit quantum states and expressions for more general quantum states are not known. In this paper, we derive explicit expressions for quantum discord for a larger class of two-qubit states, namely, a seven-parameter family of so called X-states that have been of interest in a variety of contexts in the field. We also study the relation between quantum discord, classical correlation, and entanglement for a number of two-qubit states to demonstrate that they ar...

  18. Predictors of discordance between perceived and objective neighborhood data.

    Science.gov (United States)

    Bailey, Erin J; Malecki, Kristen C; Engelman, Corinne D; Walsh, Matthew C; Bersch, Andrew J; Martinez-Donate, Ana P; Peppard, Paul E; Nieto, F Javier

    2014-03-01

    Pathways by which the social and built environments affect health can be influenced by differences between perception and reality. This discordance is important for understanding health impacts of the built environment. This study examines associations between perceived and objective measures of 12 nonresidential destinations, as well as previously unexplored sociodemographic, lifestyle, neighborhood, and urbanicity predictors of discordance. Perceived neighborhood data were collected from participants of the Survey of the Health of Wisconsin, using a self-administered questionnaire. Objective data were collected using the Wisconsin Assessment of the Social and Built Environment, an audit-based instrument assessing built environment features around each participant's residence. Overall, there was relatively high agreement, ranging from 50% for proximity to parks to more than 90% for golf courses. Higher education, positive neighborhood perceptions, and rurality were negatively associated with discordance. Associations between discordance and depression, disease status, and lifestyle factors appeared to be modified by urbanicity level. These data show perceived and objective neighborhood environment data are not interchangeable and the level of discordance is associated with or modified by individual and neighborhood factors, including the level of urbanicity. These results suggest that consideration should be given to including both types of measures in future studies. Copyright © 2014 Elsevier Inc. All rights reserved.

  19. Experimental Investigation of the Evolution of Gaussian Quantum Discord in an Open System

    DEFF Research Database (Denmark)

    Madsen, Lars S.; Berni, Adriano; Lassen, Mikael;

    2012-01-01

    Gaussian quantum discord is a measure of quantum correlations in Gaussian systems. Using Gaussian discord, we quantify the quantum correlations of a bipartite entangled state and a separable two-mode mixture of coherent states. We experimentally analyze the effect of noise addition and dissipatio...... on Gaussian discord and show that the former noise degrades the discord, while the latter noise for some states leads to an increase of the discord. In particular, we experimentally demonstrate the near death of discord by noisy evolution and its revival through dissipation....

  20. Brazilian Twin Registry: A Bright Future for Twin Studies/Twin Research: Twin Study of Alcohol Consumption and Mortality; Oxygen Uptake in Adolescent Twins/In the News: Superfecundated Twins In Vietnam; Adolescent Twin Relations; Twin and Triplet Co-Workers; A Special Twin Ultrasound; Monozygotic Twins With Different Skin Color; Identical Twin Returns from Space.

    Science.gov (United States)

    Segal, Nancy L

    2016-06-01

    The establishment of the Brazilian Twin Registry for the study of genetic, social, and cultural influences on behavior is one of eleven newly funded projects in the Department of Psychology at the University of São Paulo. These 11 interrelated projects form the core of the university's Center for Applied Research on Well-Being and Human Behavior. An overview of the planned twin research and activities to date is presented. Next, two recent twin studies are reviewed, one on the relationship between alcohol consumption and mortality, and the other on factors affecting maximal oxygen uptake. Twins cited in the media include the first identified superfecundated twins in Vietnam, adolescent twin relations, twins and triplets who work together, monozygotic twins with different skin tones and a co-twin control study that addresses the effects of space travel.

  1. A possible genetic influence in parenchyma and small airway changes in COPD: a pilot study of twins using HRCT.

    Science.gov (United States)

    Tarnoki, D L; Tarnoki, A D; Lazar, Zs; Korom, Cs; Berczi, V; Horvath, I; Karlinger, K

    2014-06-01

    Genetic effects that contribute to the risk of developing chronic obstructive pulmonary disease (COPD) have been reported. Our purpose was to estimate the possible genetic influence on CT features related to COPD in twins. Two COPD-discordant and one COPD-concordant monozygotic (MZ) twin pair, in addition to 2 control dizygotic (DZ) twin pairs underwent a low-dose high resolution computer tomography (HRCT) in inspiration and expiration (Philips Brilliance 16). Monozygotic twins were more similar in lung volume expiration and in air trapping score compared to dizygotics (382 cm(3) vs. 2303 cm(3) and 17.6% vs. 26.6%, respectively). In general, MZ twin pairs showed almost identical HRCT features independently of smoking attitude and COPD status. The dizygotic twin pairs showed larger differences in HRCT features compared to MZ twins. Lung parenchymal and small airway changes (lung density, presence of bronchial wall thickening, bronchiectasis and/or mucus plug formation, air trapping and emphysema score) seem to be genetically associated traits, independently of smoking/COPD history. A future study with a larger sample size should confirm our findings.

  2. Cohort Profile: Swedish Twin Study on Prediction and Prevention of Asthma (STOPPA).

    Science.gov (United States)

    Almqvist, Catarina; Örtqvist, Anne K; Ullemar, Vilhelmina; Lundholm, Cecilia; Lichtenstein, Paul; Magnusson, Patrik K E

    2015-06-01

    Asthma is a common childhood disease and several risk factors have been identified; however, the impact of genes and environment is not fully understood. The aim of the Swedish Twin study On Prediction and Prevention of Asthma (STOPPA) is to identify environmental (birth characteristics and early life) and genetic (including epigenetic) factors as determinants for asthmatic disease. Based on the Child and Adolescent Twin Study in Sweden (CATSS) (parental interview at 9 or 12 years, N ~23,900) and an asthma and/or wheezing algorithm, we identified a sample of monozygotic (MZ) and dizygotic (DZ) same-sexed twin pairs. The twin pairs were classified as asthma concordant (ACC), asthma discordant (ADC) and healthy concordant (HCC). A sample of 9- to 14-year-old twins and their parents were invited to participate in a clinical examination. Background characteristics were collected in questionnaires and obtained from the National Health Registers. A clinical examination was performed to test lung function and capacity (spirometry with reversibility test and exhaled nitric oxide) and collect blood (serology and DNA), urine (metabolites), feces (microbiota), and saliva (cortisol). In total, 376 twin pairs (752 individual twins) completed the study, response rate 52%. All participating twins answered the questionnaire and >90% participated in lung function testing, blood-, and saliva sampling. This article describes the design, recruitment, data collection, measures, and background characteristics, as well as ongoing and planned analyses in STOPPA. Potential gains of the study include the identification of biomarkers, the emergence of candidates for drug development, and new leads for prevention of asthma and allergic disease.

  3. Methylation as an epigenetic source of random genetic effects in the classical twin design

    Directory of Open Access Journals (Sweden)

    Dolan CV

    2015-09-01

    Full Text Available Conor V Dolan,1,3 Michel G Nivard,1,3 Jenny van Dongen,1,3 Sophie van der Sluis,2 Dorret I Boomsma,1,3,41Department of Biological Psychology, Netherlands Twin Register, VU University Amsterdam, 2Section Complex Trait Genetics, Department of Clinical Genetics, VU Medical Center, 3EMGO+ Institute for Health and Care Research, VU University Medical Center, 4Neuroscience Campus Amsterdam, Amsterdam, the Netherlands Abstract: The epigenetic effects of cytosine methylation on gene expression are an acknowledged source of phenotypic variance. The discordant monozygotic (MZ twin design has been used to demonstrate the role of methylation in disease. Application of the classical twin design, featuring both monozygotic and dizygotic twins, has demonstrated that individual differences in methylation levels are attributable to genetic and environmental (including stochastic factors, with the latter explaining most of the variance. What implications epigenetic sources of variance have for the twin modeling of (non-epigenetic phenotypes such as height and IQ is an open question. One possibility is that epigenetic effects are absorbed by the variance component attributable to unshared environmental. Another possibility is that such effects form an independent source of variance distinguishable in principle from standard genetic and environmental sources. In the present paper, we conceptualized epigenetic processes as giving rise to randomness in the effects of polygenetic influences. This means that the regression coefficient in the regression of the phenotype on the polygenic factor, as specified in the twin model, varies over individuals. We investigate the consequences of ignoring this randomness in the standard twin model. Keywords: classical twin design, epigenetics, methylation, parameter randomness, heritability

  4. Post-Markovian dynamics of quantum correlations: entanglement versus discord

    Science.gov (United States)

    Mohammadi, Hamidreza

    2017-02-01

    Dynamics of an open two-qubit system is investigated in the post-Markovian regime, where the environments have a short-term memory. Each qubit is coupled to separate environment which is held in its own temperature. The inter-qubit interaction is modeled by XY-Heisenberg model in the presence of spin-orbit interaction and inhomogeneous magnetic field. The dynamical behavior of entanglement and discord has been considered. The results show that quantum discord is more robust than quantum entanglement, during the evolution. Also the asymmetric feature of quantum discord can be monitored by introducing the asymmetries due to inhomogeneity of magnetic field and temperature difference between the reservoirs. By employing proper parameters of the model, it is possible to maintain nonvanishing quantum correlation at high degree of temperature. The results can provide a useful recipe for studying dynamical behavior of two-qubit systems such as trapped spin electrons in coupled quantum dots.

  5. Discordance between patient and surgeon satisfaction after total joint arthroplasty.

    Science.gov (United States)

    Harris, Ian A; Harris, Anita M; Naylor, Justine M; Adie, Sam; Mittal, Rajat; Dao, Alan T

    2013-05-01

    We surveyed 331 patients undergoing total hip or knee arthroplasty pre-operatively, and patients and surgeons were both surveyed 6 and 12 months post-operatively. We identified variables (demographic factors, operative factors and patient expectations) as possible predictors for discordance in patient-surgeon satisfaction. At 12 months, 94.5% of surgeons and 90.3% of patients recorded satisfaction with the outcome. The discordance between patient and surgeon satisfaction was mainly due to patient dissatisfaction-surgeon satisfaction. In an adjusted analysis, the strongest predictors of discordance in patient-surgeon satisfaction were unmet patient expectations and the presence of complications. Advice to potential joint arthroplasty candidates regarding the decision to proceed with surgery should be informed by patient reported outcomes, rather than the surgeon's opinion of the likelihood of success.

  6. Quantum discord and entanglement in grover search algorithm

    Science.gov (United States)

    Ye, Bin; Zhang, Tingzhong; Qiu, Liang; Wang, Xuesong

    2016-06-01

    Imperfections and noise in realistic quantum computers may seriously affect the accuracy of quantum algorithms. In this article we explore the impact of static imperfections on quantum entanglement as well as non-entangled quantum correlations in Grover's search algorithm. Using the metrics of concurrence and geometric quantum discord, we show that both the evolution of entanglement and quantum discord in Grover algorithm can be restrained with the increasing strength of static imperfections. For very weak imperfections, the quantum entanglement and discord exhibit periodic behavior, while the periodicity will most certainly be destroyed with stronger imperfections. Moreover, entanglement sudden death may occur when the strength of static imperfections is greater than a certain threshold.

  7. Sex therapy: an adjunct in the treatment of marital discord.

    Science.gov (United States)

    Mobarak, A; Tamerin, J S; Tamerin, N G

    1986-01-01

    This is a pilot project where sex therapy format was used in a group setting for the treatment of six married couples who had severe marital discord. None of the patients had a diagnosable sexual dysfunction, but sexual dissatisfaction was one of the common universal complaints. The article describes the treatment format and the clinical progress of the couples. In spite of the fact that the couples' marital discord has been refractory to prior therapy, there has been an overall improvement in their marriage as their sexuality improved. Possible therapeutic factors which led to this improvement are addressed. Despite limitations in patients' sampling and size, the results have been promising enough to encourage others to explore this modality as an alternative or adjunctive treatment for couples with severe marital discord and sexual dissatisfaction who have been refractory to unstructured traditional therapy.

  8. Gene Tree Discordance Causes Apparent Substitution Rate Variation.

    Science.gov (United States)

    Mendes, Fábio K; Hahn, Matthew W

    2016-07-01

    Substitution rates are known to be variable among genes, chromosomes, species, and lineages due to multifarious biological processes. Here, we consider another source of substitution rate variation due to a technical bias associated with gene tree discordance. Discordance has been found to be rampant in genome-wide data sets, often due to incomplete lineage sorting (ILS). This apparent substitution rate variation is caused when substitutions that occur on discordant gene trees are analyzed in the context of a single, fixed species tree. Such substitutions have to be resolved by proposing multiple substitutions on the species tree, and we therefore refer to this phenomenon as Substitutions Produced by ILS (SPILS). We use simulations to demonstrate that SPILS has a larger effect with increasing levels of ILS, and on trees with larger numbers of taxa. Specific branches of the species trees are consistently, but erroneously, inferred to be longer or shorter, and we show that these branches can be predicted based on discordant tree topologies. Moreover, we observe that fixing a species tree topology when performing tests of positive selection increases the false positive rate, particularly for genes whose discordant topologies are most affected by SPILS. Finally, we use data from multiple Drosophila species to show that SPILS can be detected in nature. Although the effects of SPILS are modest per gene, it has the potential to affect substitution rate variation whenever high levels of ILS are present, particularly in rapid radiations. The problems outlined here have implications for character mapping of any type of trait, and for any biological process that causes discordance. We discuss possible solutions to these problems, and areas in which they are likely to have caused faulty inferences of convergence and accelerated evolution.

  9. The Roots of Autism and ADHD Twin Study in Sweden (RATSS).

    Science.gov (United States)

    Bölte, Sven; Willfors, Charlotte; Berggren, Steve; Norberg, Joakim; Poltrago, Lina; Mevel, Katell; Coco, Christina; Fransson, Peter; Borg, Jacqueline; Sitnikov, Rouslan; Toro, Roberto; Tammimies, Kristiina; Anderlid, Britt-Marie; Nordgren, Ann; Falk, Anna; Meyer, Urs; Kere, Juha; Landén, Mikael; Dalman, Christina; Ronald, Angelica; Anckarsäter, Henrik; Lichtenstein, Paul

    2014-06-01

    Neurodevelopmental disorders affect a substantial minority of the general population. Their origins are still largely unknown, but a complex interplay of genetic and environmental factors causing disturbances of the central nervous system's maturation and a variety of higher cognitive skills is presumed. Only limited research of rather small sample size and narrow scope has been conducted in neurodevelopmental disorders using a twin-differences design. The Roots of Autism and ADHD Twin Study in Sweden (RATSS) is an ongoing project targeting monozygotic twins discordant for categorical or dimensional autistic and inattentive/hyperactive-impulsive phenotypes as well as other neurodevelopmental disorders, and typically developing twin controls. Included pairs are 9 years of age or older, and comprehensively assessed for psychopathology, medical history, neuropsychology, and dysmorphology, as well as structural, functional, and molecular brain imaging. Specimens are collected for induced pluripotent (iPS) and neuroepithelial stem cells, genetic, gut bacteria, protein-/monoamine, and electron microscopy analyses. RATSS's objective is to generate a launch pad for novel surveys to understand the complexity of genotype-environment-phenotype interactions in autism spectrum disorder and attention-deficit hyperactivity disorder (ADHD). By October 2013, RATSS had collected data from 55 twin pairs, among them 10 monozygotic pairs discordant for autism spectrum disorder, seven for ADHD, and four for other neurodevelopmental disorders. This article describes the design, recruitment, data collection, measures, collected pairs' characteristics, as well as ongoing and planned analyses in RATSS. Potential gains of the study comprise the identification of environmentally mediated biomarkers, the emergence of candidates for drug development, translational modeling, and new leads for prevention of incapacitating outcomes.

  10. Molecular analysis of the gut microbiota of identical twins with Crohn's disease

    Energy Technology Data Exchange (ETDEWEB)

    Jansson, Janet; Dicksved, Johan; Halfvarson, Jonas; Rosenquist, Magnus; Jarnerot, Gunnar; Tysk, Curt; Apajalahti, Juha; Engstrand, Lars; Jansson, Janet K.

    2008-03-14

    Increasing evidence suggests that a combination of host genetics and the composition of the gut microbiota are important for development of Crohn's disease (CD). Our aim was to study identical twins with CD to determine microbial factors independently of host genetics. Fecal samples were studied from 10 monozygotic twin pairs with CD (discordant n=6, concordant n=4) and 8 healthy twin pairs. DNA was extracted, 16S rRNA genes were PCR amplified and T-RFLP fingerprints generated using general bacterial and Bacteroides group specific primers. The microbial communities were also profiled based on their % G+C contents. Bacteroides 16S rRNA genes were cloned and sequenced from a subset of the samples. The bacterial diversity in each sample and similarity indices between samples were estimated based on the T-RFLP data using a combination of statistical approaches. Healthy individuals had a significantly higher bacterial diversity compared to individuals with CD. The fecal microbial communities were more similar between healthy twins than between twins with CD, especially when these were discordant for the disease. The microbial community profiles of individuals with ileal CD were significantly different from healthy individuals and those with colonic CD. Also, CD individuals had a lower relative abundance of B. uniformis and higher relative abundances of B. ovatus and B. vulgatus. Our results suggest that genetics and/or environmental exposure during childhood in part determine the gut microbial composition. However, CD is associated with dramatic changes in the gut microbiota and this was particularly evident for individuals with ileal CD.

  11. Co-twin study of the effect of environment and dietary elements on acquisition of Helicobacter pylori infection.

    Science.gov (United States)

    Malaty, H M; Graham, D Y; Isaksson, I; Engstrand, L; Pedersen, N L

    1998-10-15

    The rate of Helicobacter pylori infection is inversely related to socioeconomic status, and childhood is thought to be the major acquisition period. The authors investigated the importance of childhood environment in the acquisition of H. pylori infection. A cross-sectional study was conducted of monozygotic and dizygotic twins who were reared apart or reared together. Three hundred twins from a subregistry of the Swedish Twin Registry were studied. H. pylori status was evaluated by using an enzyme-linked immunosorbent assay for anti-H. pylori immunoglobulin G. Socioeconomic status during childhood was assessed on the basis of the density of the living conditions and the economic situation of the family that reared the twins. Current socioeconomic status was estimated by using a scale that combined income and education. Dietary elements that were studied included fat and fiber intake and ascorbic acid consumption. The density of the childhood home was consistently found to be significantly associated with the acquisition of H. pylori infection (p = 0.04). Among monozygotic twins reared apart and discordant for H. pylori status, affected twins were raised in homes under poorer socioeconomic conditions than those of their unaffected co-twins (p = 0.02). Additionally, infected twins consumed more ascorbic acid than their unaffected co-twins (p = 0.04). The finding of an effect of socioeconomic status during childhood on the acquisition of H. pylori among monozygotic twins who were reared apart and had an identical genetic makeup but not a common environment confirms the hypothesis that childhood acquisition of H. pylori infection is linked to hygiene practices.

  12. Reared-Apart Chinese Twins: Chance Discovery/Twin-Based Research: Twin Study of Media Use; Twin Relations Over the Life Span; Breast-Feeding Opposite-Sex Twins/Print and Online Media: Twins in Fashion; Second Twin Pair Born to Tennis Star; Twin Primes; Twin Pandas.

    Science.gov (United States)

    Segal, Nancy L

    2017-04-01

    A January 2017 reunion of 10-year-old reared-apart Chinese twin girls was captured live on ABC's morning talk show Good Morning America, and rebroadcast on their evening news program Nightline. The twins' similarities and differences, and their participation in ongoing research will be described. This story is followed by reviews of twin research concerning genetic and environmental influences on media use, twin relations across the lifespan and the breast-feeding of opposite-sex twins. Popular interest items include twins in fashion, the second twin pair born to an internationally renowned tennis star, twin primes and twin pandas.

  13. Entanglement and discord for qubits and higher spin systems

    Indian Academy of Sciences (India)

    A R P Rau

    2014-08-01

    We discuss aspects of entanglement and quantum discord, two of the quantum correlations that are of much interest in the field of quantum information. Their definitions and handling will be discussed, with simple illustrative examples. A specific example is of entanglement decay resulting from a simple dissipative process and how to alter that decay. An analytical prescription for computing quantum discord when a qubit (spin-1/2 or two-level quantum system) is involved is presented along with applications, and its generalization to higher spins (many levels) indicated.

  14. Quantification of quantum discord in a antiferromagnetic Heisenberg compound

    Energy Technology Data Exchange (ETDEWEB)

    Singh, H., E-mail: chiranjib@iiserkol.ac.in; Chakraborty, T., E-mail: chiranjib@iiserkol.ac.in; Mitra, C., E-mail: chiranjib@iiserkol.ac.in [Indian Institute of Science Education and Research (IISER) Kolkata, Mohanpur Campus, Mohanpur -741252, Nadia, West Bengal (India)

    2014-04-24

    An experimental quantification of concurrence and quantum discord from heat capacity (C{sub p}) measurement performed over a solid state system has been reported. In this work, thermodynamic measurements were performed on copper nitrate (CN, Cu(NO{sub 3}){sub 2}⋅2.5H{sub 2}O) single crystals which is an alternating antiferromagnet Heisenberg spin 1/2 system. CN being a weak dimerized antiferromagnet is an ideal system to investigate correlations between spins. The theoretical expressions were used to obtain concurrence and quantum discord curves as a function of temperature from heat capacity data of a real macroscopic system, CN.

  15. Minimal Mirror Twin Higgs

    CERN Document Server

    Barbieri, Riccardo; Harigaya, Keisuke

    2016-01-01

    In a Mirror Twin World with a maximally symmetric Higgs sector the little hierarchy of the Standard Model can be significantly mitigated, perhaps displacing the cutoff scale above the LHC reach. We show that consistency with observations requires that the Z2 parity exchanging the Standard Model with its mirror be broken in the Yukawa couplings. A minimal such effective field theory, with this sole Z2 breaking, can generate the Z2 breaking in the Higgs sector necessary for the Twin Higgs mechanism, and has constrained and correlated signals in invisible Higgs decays, direct Dark Matter Detection and Dark Radiation, all within reach of foreseen experiments. For dark matter, both mirror neutrons and a variety of self-interacting mirror atoms are considered. Neutrino mass signals and the effects of a possible additional Z2 breaking from the vacuum expectation values of B-L breaking fields are also discussed.

  16. Relationship between type 1 diabetes and atopic diseases in a twin population

    DEFF Research Database (Denmark)

    Thomsen, S F; Duffy, D L; Kyvik, K O;

    2011-01-01

    AIM: To study the association between type 1 diabetes and atopic diseases in a twin population. METHODS: We performed record linkage between questionnaire-defined atopic dermatitis, asthma and hay fever, and hospital discharge diagnoses of type 1 diabetes in 54,530 Danish twins, 3-71 years of age....... RESULTS: The age- and sex-adjusted risk of atopic dermatitis was decreased in subjects with type 1 diabetes compared with nondiabetic subjects, (2.1%vs 9.9%), odds ratio (OR)= 0.23 (0.07-0.71), P = 0.011, whereas asthma and hay fever were not significantly associated with type 1 diabetes. Within twin...... pairs discordant for type 1 diabetes, the diabetic twin had a lower risk of atopic dermatitis relative to the nondiabetic co-twin. Genetic factors for atopic dermatitis and type 1 diabetes were negatively correlated (r = -0.30), P = 0.0009. CONCLUSIONS: These findings substantiate the Th1 vs Th2 cell...

  17. Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis

    Directory of Open Access Journals (Sweden)

    Melean German

    2010-08-01

    Full Text Available Abstract Background Neurofibromatosis type 1 is a common autosomal dominant disorder with full penetrance and variable expression. The condition predisposes individuals to the development of malignant nervous system tumours, most frequently Malignant Peripheral Nerve Sheath Tumours (MPNSTs. Previous studies indicate that genetic factors other than mutations in NF1 may be responsible for the condition's variable expression. Case report Here we present data from a pair of monozygotic twins affected by Neurofibromatosis type 1 resulting from a de novo mutation. Both twins developed a left sciatic plexiform neurofibroma that evolved into MPNST at a similar age and they also developed pulmonary metastasis at the same age. Other concordant traits between the twins were: macrocephaly, psychomotor delay, café-au-lait spots, cutaneous neurofibromas, retroperitoneal, pleural and paraspinal neurofibromas. The main discordant features observed were tibial pseudoarthrosis, pectus carinatum, osteoporosis and thymus hyperplasia. Conclusions This is the first report of monozygotic twins with Neurofibromatosis type 1 that develop MPNSTs, the localization and chronological evolution of which, and its metastasis, is concordant in both twins. These cases suggest that the events involved in the transformation of benign plexiform neurofibromas to MPNSTs in Neurofibromatosis type 1, follow a spatiotemporally programme that is influenced by heritable factors other than NF1 mutations.

  18. Lung cancer, genetic predisposition and smoking: the Nordic Twin Study of Cancer

    DEFF Research Database (Denmark)

    Hjelmborg, Jacob v. B.; Korhonen, Tellervo; Holst, Klaus;

    2016-01-01

    Background: We aimed to disentangle genetic and environmental causes in lung cancer while considering smoking status. Methods: Four Nordic twin cohorts (43 512 monozygotic (MZ) and 71 895 same sex dizygotic (DZ) twin individuals) had smoking data before cancer diagnosis. We used time...... for lung cancer, nearly all were current smokers at baseline and only one concordant pair was seen among never smokers. Among ever smokers, the case-wise concordance of lung cancer, that is the risk before a certain age conditional on lung cancer in the co-twin before that age, was significantly increased...... pairs. Among smoking discordant pairs, the pairwise HR for lung cancer of the ever smoker twin compared to the never smoker co-twin was 5.4 (95% CI 2.1 to 14.0) in MZ pairs and 5.0 (95% CI 3.2 to 7.9) in DZ pairs. Conclusions: The contribution of familial effects appears to decrease by age...

  19. Lung cancer, genetic predisposition and smoking: the Nordic Twin Study of Cancer

    DEFF Research Database (Denmark)

    Hjelmborg, Jacob v. B.; Korhonen, Tellervo; Holst, Klaus

    2016-01-01

    Background: We aimed to disentangle genetic and environmental causes in lung cancer while considering smoking status. Methods: Four Nordic twin cohorts (43 512 monozygotic (MZ) and 71 895 same sex dizygotic (DZ) twin individuals) had smoking data before cancer diagnosis. We used time...... for lung cancer, nearly all were current smokers at baseline and only one concordant pair was seen among never smokers. Among ever smokers, the case-wise concordance of lung cancer, that is the risk before a certain age conditional on lung cancer in the co-twin before that age, was significantly increased...... pairs. Among smoking discordant pairs, the pairwise HR for lung cancer of the ever smoker twin compared to the never smoker co-twin was 5.4 (95% CI 2.1 to 14.0) in MZ pairs and 5.0 (95% CI 3.2 to 7.9) in DZ pairs. Conclusions: The contribution of familial effects appears to decrease by age...

  20. Social activity and healthy aging: a study of aging Danish twins.

    Science.gov (United States)

    McGue, Matt; Christensen, Kaare

    2007-04-01

    Although social and intellectual engagement have been consistently associated with late-life functioning, rather than true causation, these associations may reflect the experiential choices of high functioning individuals (i.e., selection effects). We investigated the association of social activity with late-life physical functioning, cognitive functioning, and depression symptomatology using data from 1112 pairs of like-sex twins who participated in the Longitudinal Study of Aging Danish Twins. Consistent with previous research, we found that social activity was significantly correlated with overall level of physical functioning, cognitive functioning, and depression symptomatology. We also found that social activity was significantly and moderately heritable (estimate of .36), raising the possibility that its association with late-life functioning might reflect selection processes. Further, social activity did not predict change in functioning and in monozygotic twin pairs discordant on level of social activity, the more socially active twin was not less susceptible to age decreases in physical and cognitive functioning and increases in depression symptomatology than the less socially active twin. These results are interpreted in the context of the additional finding that nonshared environmental factors, although apparently not social activity, are the predominant determinant of changes in late-life functioning.

  1. Emergence of Digital Twins

    OpenAIRE

    Datta, Shoumen Palit Austin

    2016-01-01

    Multiple forms of digital transformation are imminent. Digital Twins represent one concept. It is gaining momentum because it may offer real-time transparency. Rapid diffusion of digital duplicates faces hurdles due to lack of semantic interoperability between architectures, standards and ontologies. The technologies necessary for automated discovery are in short supply. Progression of the field depends on convergence of information technology, operational technology and protocol-agnostic tel...

  2. Nutrition in twin pregnancy.

    Science.gov (United States)

    MacGillivray, I

    1979-01-01

    The urinary nitrogen output appears to be related to both protein and energy intake, so that women having heavier babies probably eat more, although this may simply mean that they are larger women. Women with twin pregnancies have been found to have a lesser urinary nitrogen output, but it seems unlikely that this be due to lower intakes. They might simply utilize their diet more efficiently--a hypothesis that is now being tested.

  3. Marital Discord and Subsequent Marital Dissolution: Perceptions of Nepalese Wives and Husbands

    Science.gov (United States)

    Jennings, Elyse

    2014-01-01

    This study examines the influence of marital discord on separation and divorce in a rural South Asian setting. We know little about how marital discord influences marital outcomes in settings with low personal freedom and limited access to independence. Using a sample of 674 couples from the Chitwan Valley Family Study in Nepal, this paper investigates the impact of marital discord on the rate of marital dissolution, and the extent to which wives’ and husbands’ perceptions of discord influence dissolution. Results reveal that (a) spouses’ perceptions of marital discord increase the rate of marital dissolution, (b) both husbands’ and wives’ perceptions of discord have an important influence, and (c) the influence of wives’ perceptions of discord is independent of their husbands’ perceptions. Overall, these findings suggest that both spouses’ perceptions of discord are important for marital outcomes, even in settings where the costs of marital dissolution are relatively high. PMID:25484450

  4. Tribute to dr louis keith: twin and physician extraordinaire/twin research reports: influences on asthma severity; chimerism revisited; DNA strand break repair/media reports: twins born apart; elevated twin frequencies; celebrity father of twins; conjoined twinning.

    Science.gov (United States)

    Segal, Nancy L

    2014-10-01

    The International Society for Twin Studies has lost a valued friend and colleague. Dr Louis Keith, Emeritus Professor of Obstetrics and Gynecology at Northwestern University, in Chicago, passed away on Sunday, July 6, 2014. His life and work with twins will be acknowledged at the November 2014 International Twin Congress in Budapest, Hungary. Next, twin research reports on the severity of asthma symptoms, a case of chimerism, and factors affecting DNA breakage and repair mechanisms are reviewed. Media reports cover twins born apart, elevated twin frequencies, a celebrity father of twins, and a family's decision to keep conjoined twins together.

  5. Twin-to-twin delivery time: neonatal outcome of the second twin.

    Science.gov (United States)

    Schneuber, Susanne; Magnet, Eva; Haas, Josef; Giuliani, Albrecht; Freidl, Thomas; Lang, Uwe; Bjelic-Radisic, Vesna

    2011-12-01

    To examine the effect of twin-to-twin delivery time (TTDT) on neonatal outcome. We evaluated twin deliveries >34 weeks of gestation. Twin pregnancies with both twins delivered by cesarean section and pregnancies with antenatal complications were excluded. We analyzed TTDT and neonatal outcomes of the second twin (umbilical arterial pH value (pH(art)), Apgar scores at 1, 5 and 10 minutes, need for intensive care). The study population was divided into two homogenous groups based on the mode of delivery: (A) vertex presentation and vaginal delivery of both twins, (B) vertex presentation and vaginal or vaginal operative delivery of twin I, breech or transverse presentation and vaginal breech delivery or cesarean section (CS) of twin II. A total of 207 twin pairs were included in our study. In Group A (n = 151) there were no significant correlations between TTDT and pH(art) or Apgar scores at 1,5 and 10 minutes of twin II (p = .156; 0.861; 0.151 and 0.384, respectively). In Group B (n = 56), the mean pH(art) of twin II was inversely correlated to TTDT, but not significantly (p = .417). TTDT was inversely related to 1-min and 5-min Apgar scores, but not significantly (p = .330; p = .138, respectively). The 10-min Apgar score showed no correlation with TTDT (p = .638). Increasing TTDT was not associated with adverse fetal outcome. Expectant management of the second twin appears possible and elapsed time alone does not appear to be an indication for intervention.

  6. Thermal quantum discord in Heisenberg models with Dzyaloshinski-Moriya interaction

    Institute of Scientific and Technical Information of China (English)

    Wang Lin-Cheng; Yan Jun-Yan; Yi Xue-Xi

    2011-01-01

    We study the quantum discord of the bipartite Heisenberg model with the Dzyaloshinski-Moriya(DM)interaction in thermal equilibrium state and discuss the effect of the DM interaction on the quantum discord.The quantum entanglement of the system is also discussed and compared with quantum discord. Our results show that the quantum discord may reveal more properties of the system than quantum entanglement and the DM interaction may play an important role in the Heisenberg model.

  7. Trojan twin planets

    Science.gov (United States)

    Dvorak, R.; Loibnegger, B.; Schwarz, R.

    2017-03-01

    The Trojan asteroids are moving in the vicinity of the stable Lagrange points L_4 and L_5 of the gas giants Jupiter, Uranus and Neptune. Their motion can be described and understood with the aid of the restricted three-body problem. As an extension of this problem we investigate how stable motion close to the Lagrange points of two massive bodies can exist. This configuration can be described as the Trojan Twin Problem when we regard the two additional bodies as having a mass significantly smaller than the the two primary bodies: a star in the center (m_1) and an additional Jupiter-like mass (m_2). Using this 4-body problem we have undertaken numerical investigations concerning possible stable "twin orbits". However, these two bodies (m_3 and m_4) in Trojan-like orbits may have quite different masses. We decided to choose 6 different scenaria for this problem: as primary body, m2, we have taken a Jupiter-like planet, a Saturn-like one, and a super-Earth with 10 Earthmasses (m_{Earth}) respectively. As quasi twin planets, we have used different mass ratios namely objects for m3 and m4 from 10m_{Earth} to Moon like ones. We found different stable configurations depending on the involved masses and the initial distances between the twins (always close to the Lagrange point). Although the formation of such a configuration seems to be not very probable we should not exclude that it exists regarding the huge number of planets even in our own galaxy. This model is of special interest when the most massive planet (m_2) is moving on an orbit in the habitable zone around a main sequence star. One can use our results of stable orbits of Trojan Twin Planets (or asteroids) for extrasolar systems having as second primary a Jupiter-like, a Saturn-like or a super-Earth like planet around a star similar to our Sun.

  8. Spatial patterns in discordant diagnostic test results for Chagas disease: links to transmission hotspots.

    Science.gov (United States)

    Levy, Michael Z; Bowman, Natalie M; Kawai, Vivian; Plotkin, Joshua B; Waller, Lance A; Cabrera, Lilia; Steurer, Frank; Seitz, Amy E; Pinedo-Cancino, Viviana V; Cornejo del Carpio, Juan Geny; Cordova Benzaquen, Eleazar; McKenzie, F Ellis; Maguire, James H; Gilman, Robert H; Bern, Caryn

    2009-04-15

    Diagnosis of Chagas disease is hindered by discordance between screening and confirmatory test results for Trypanosoma cruzi infection. In periurban Arequipa, Peru, spatial analysis revealed that individuals with discordant test results are spatially clustered in hotspots of T. cruzi transmission, suggesting that discordant results likely represent true infections in this setting.

  9. Revised Definitions of Quantum Dissonance and Quantum Discord

    CERN Document Server

    Zhang, Zhan-jun

    2010-01-01

    We show that all the correlations defined by K. Modi et al [Phys. Rev. Lett. {\\bf 104}, 080501 (2010)] except for the total mutual information should be redefined so that some physical quantities (e.g., the accessible maximal classical correlation and the resultant exact quantum discord) are right.

  10. Marital Discord and Marital Separation: A County Survey.

    Science.gov (United States)

    Kitson, Gay C.

    1985-01-01

    Explored the frequency of marital separations of 48 hours or more due to marital discord in Cuyahoga County, Ohio, residents (N=1,101). Results indicated one in six couples is likely to separate at some point in their relationship. Income and children account for much of the variation between race, sex, and separations. (Author/BL)

  11. When You Are a Twin or Triplet

    Science.gov (United States)

    ... be a twin? Are you a twin and wonder why everyone thinks it's so special? It's fascinating ... the way the egg is fertilized when a woman becomes pregnant . In fraternal twins, two different eggs ...

  12. Twin studies of schizophrenia: from bow-and-arrow concordances to star wars Mx and functional genomics.

    Science.gov (United States)

    Cardno, A G; Gottesman, I I

    2000-01-01

    Twin studies have been vital for establishing an important genetic contribution to the etiology of schizophrenia. The five newest studies since 1995 from Europe and Japan have confirmed earlier findings. They yielded probandwise concordance rates of 41-65% in monozygotic (MZ) pairs and 0-28% in dizygotic (DZ) pairs, and heritability estimates of approximately 80-85%. Twin studies are also valuable for investigating the etiological relationships between schizophrenia and other disorders, and the genetic basis of clinical heterogeneity within schizophrenia. Studies of discordant MZ pairs provide further insights into non-inherited factors that contribute to the multifactorial etiology of this disorder. More recently, twin studies have begun to be used to directly investigate molecular genetic and epigenetic processes underlying schizophrenia.

  13. Impact of the Xba1-polymorphism of the human muscle glycogen synthase gene on parameters of the insulin resistance syndrome in a Danish twin population

    DEFF Research Database (Denmark)

    Fenger, M; Poulsen, P; Beck-Nielsen, H;

    2000-01-01

    was increased in female carriers of the A2-allele with impaired glucose tolerance or Type 2 diabetes mellitus (79 +/- 1 vs. 94 +/- 4 mmHg, P insulin resistance syndrome were associated with the polymorphism. CONCLUSIONS......AIMS: To establish the impact on the insulin resistance syndrome of the intron 14 Xba1-polymorphism in human muscle glycogen synthase (GYS1). METHODS: Parameters related to the insulin resistance syndrome were measured in 244 monozygotic twins and 322 dizygotic twins with or without impaired...... and the remainder had the genotype A1A2. No A2A2-genotypes were detected. In 11 genotypic discordant dizygotic twin pairs the insulin resistance was significantly increased in the twins carrying the A1A2 genotype regardless of sex (HOMA index 1.81 (A1A1) vs. 2.57 (A1A2), P

  14. Impact of the Xba1-polymorphism of the human muscle glycogen synthase gene on parameters of the insulin resistance syndrome in a Danish twin population

    DEFF Research Database (Denmark)

    Fenger, M; Poulsen, P; Beck-Nielsen, H;

    2000-01-01

    : The Xba1-polymorphism of the human muscle glycogen synthase gene is correlated to insulin resistance and to diastolic blood pressure. The polymorphism does not involve any known transcription factor or any structural change in GYS1, and these correlations are therefore most probably caused by linkage......AIMS: To establish the impact on the insulin resistance syndrome of the intron 14 Xba1-polymorphism in human muscle glycogen synthase (GYS1). METHODS: Parameters related to the insulin resistance syndrome were measured in 244 monozygotic twins and 322 dizygotic twins with or without impaired...... and the remainder had the genotype A1A2. No A2A2-genotypes were detected. In 11 genotypic discordant dizygotic twin pairs the insulin resistance was significantly increased in the twins carrying the A1A2 genotype regardless of sex (HOMA index 1.81 (A1A1) vs. 2.57 (A1A2), P

  15. Quantum Discord Dynamics in Two Different Non-Markovian Reservoirs

    Institute of Scientific and Technical Information of China (English)

    DING Bang-Fu; WANG Xiao-Yun; LIU Jing-Feng; YAN Lin; ZHAO He-Ping

    2011-01-01

    The quantum discord dynamics of two non-coupled two-level atoms independently interacting with their reservoir is studied under two kinds of non-Markovian conditions,namely,an off-resonant case with atomic transition frequency and a photonic band gap.In the first case,the phenomenon of the quantum discord loss and the oscillatory behavior of the quantum discord can occur by changing the detuning quantity and reducing the spectral coupling width for any initial Bell state.Under the second condition,the trapping phenomenon of the quantum discord can be presented by adjusting the width of gap,that is,the quantum discord of two atoms keep a nonzero constant for a long time.Entanglement,as a kind of quantum correlation without a classical counterpart,plays an important role in quantum information and communication theory,[1,2] quantum teleportation,[3] quantum cryptography[4,5] and universal quantum computing.[6]%We report the first implementation of transparent electrodes in bottom-gate graphene transistors used for photo detection. Compared to conventional nontransparent electrodes, the transparent electrodes allow photons to transmit through to the graphene beneath, providing an enlarged absorption area and thereby giving rise to an enhancement of photocurrent generation. The devices are fabricated with an asymmetric metallization scheme and the experimental results show that the maximum photocurrent density using the transparent electrodes (ITO and Pd/ITO) is over two times higher than that using the nontransparent electrodes (Ti and Pd), indicating a significant enhancement in the performance of graphene photo sensors.

  16. Is Cesarean Delivery Preferable in Twin Pregnancies at >=36 Weeks Gestation?

    Science.gov (United States)

    Dong, Yu; Luo, Zhong-Cheng; Yang, Zu-Jing; Chen, Lu; Guo, Yu-Na; Branch, Ware; Zhang, Jun; Huang, Hong

    2016-01-01

    Background The optimal mode of delivery in twin pregnancies remains controversial. A recent randomized trial did not find any benefit of planned cesarean vs. vaginal delivery at 32–38 weeks gestation, but the trial was not powered to detect a moderate effect. We aimed to evaluate the impact of cesarean delivery on perinatal mortality and severe neonatal morbidity in twin pregnancies at ≥32 weeks through a large database exploration approach with the power to detect moderate risk differences. Methods In a retrospective birth cohort study using the U.S. matched multiple births, 1995–2000 (the available largest multiple birth dataset), we compared perinatal outcomes in twins (n = 181,810 pregnancies) delivered at 32–41 weeks gestation without congenital anomalies. The primary outcome was a composite of perinatal death and severe neonatal morbidity. Cox regression was used to estimate the adjusted hazard ratio (aHR) controlling for the propensity to cesarean delivery, fetal characteristics (sex, birth weight, birth weight discordance, same-sex twin or not) and twin-cluster level dependence. Prospective risks were calculated using the fetuses-at-risk denominators. Results The overall rates of the primary outcome were slightly lower in intended cesarean (6.20%) vs. vaginal (6.45%) deliveries. The aHRs of the primary outcome were in favor of vaginal delivery at 32 (aHR = 1.06, p = 0.03) or 33 (aHR = 1.22, pcesarean delivery at 36 (aHR = 0.94, p = 0.004), 37, 38 and 39+ weeks (aHR: 0.72 to 0.78, all pcesarean vs. vaginal deliveries at 36+ weeks of gestation remained when the analyses were restricted to different-sex (dichorionic) twins (aHR = 0.84, 95% CI 0.80–0.88). Conclusion Cesarean delivery may be beneficial for perinatal outcomes overall in twin pregnancies at ≥36 weeks gestation. PMID:27227678

  17. Genetics and the environment affect the relationship between depression and low back pain: a co-twin control study of Spanish twins.

    Science.gov (United States)

    Pinheiro, Marina B; Ferreira, Manuela L; Refshauge, Kathryn; Colodro-Conde, Lucía; Carrillo, Eduvigis; Hopper, John L; Ordoñana, Juan R; Ferreira, Paulo H

    2015-03-01

    Although the co-occurrence of low back pain (LBP) and depression is common, the nature of this association remains unclear. We aimed to investigate whether symptoms of depression are associated with LBP after adjusting for various confounders, including genetics. We used cross-sectional data from 2148 twins from the Murcia Twin Registry, Spain. All twins answered questions about lifetime prevalence of LBP (outcome variable) and symptoms of depression, collected through two instruments, deriving 3 measures: (1) self-report feelings of depression and anxiety; (2) state depression, and (3) trait depression. First, associations were investigated using logistic regression analysis of the total sample. We performed subsequent matched within-pair twin case-control analyses with all complete twin pairs discordant for LBP regardless of zygosity, and separately for dizygotic and monozygotic pairs. This sequential analysis allows for more precise estimates of the relationship between variables, as in each step, the impact of early shared environment and genetics is further considered. Symptoms of depression and anxiety were associated with higher prevalence of LBP in the total sample analysis (odds ratio [OR], 1.64; 95% confidence interval [CI], 1.31-2.05), and this relationship was stronger in the subsequent case-control analysis (OR, 1.74; 95% CI, 1.13-2.69) and dizygotic case-control analysis (OR, 2.39; 95% CI, 1.39-4.08) but disappeared when the analysis was conducted for monozygotic twins (OR, 0.92; 95% CI, 0.42-2.05). A similar pattern was found for state and trait depression. The depression-LBP relationship disappears when high levels of control for confounding factors are applied and seems to be driven by genetic or environmental factors that influence both conditions.

  18. Twinning across the Developing World.

    Directory of Open Access Journals (Sweden)

    Jeroen Smits

    Full Text Available BACKGROUND: Until now, little was known about the variation in incidence of twin births across developing countries, because national representative data was lacking. This study provides the first comprehensive overview of national twinning rates across the developing world on the basis of reliable survey data. METHODS: Data on incidence of twinning was extracted from birth histories of women aged 15-49 interviewed in 150 Demographic and Health Surveys, held between 1987 and 2010 in 75 low and middle income countries. During the interview, information on all live births experienced by the women was recorded, including whether it was a singleton or multiple birth. Information was available for 2.47 million births experienced by 1.38 million women in a period of ten years before the interview. Twinning incidence was measured as the number of twin births per thousand births. Data for China were computed on the basis of published figures from the 1990 census. Both natural and age-standardized twinning rates are presented. RESULTS/CONCLUSIONS: The very low natural twinning rates of 6-9 per thousand births previously observed in some East Asian countries turn out to be the dominant pattern in the whole South and South-East Asian region. Very high twinning rates of above 18 per thousand are not restricted to Nigeria (until now seen as the world's twinning champion but found in most Central-African countries. Twinning rates in Latin America turn out to be as low as those in Asia. Changes over time are small and not in a specific direction. SIGNIFICANCE: We provide the most complete and comparable overview of twinning rates across the developing world currently possible.

  19. Twinning and heteropaternity in chimpanzees (Pan troglodytes).

    Science.gov (United States)

    Ely, John J; Frels, William I; Howell, Sue; Izard, M Kay; Keeling, Michale E; Lee, D Rick

    2006-05-01

    Unlike monozygotic (MZ) twins, dizygotic (DZ) twins develop from separate ova. The resulting twins can have different sires if the fertilizing sperm comes from different males. Routine paternity testing of a pair of same-sexed chimpanzee twins born to a female housed with two males indicated that the twins were sired by two different males. DNA typing of 22 short-tandem repeat (STR) loci demonstrated that these twins were not MZ twins but heteropaternal DZ twins. Reproductive data from 1926-2002 at five domestic chimpanzee colonies, including 52 twins and two triplets in 1,865 maternities, were used to estimate total twinning rates and the MZ and DZ components. The average chimpanzee MZ twinning rate (0.43%) equaled the average human MZ rate (0.48%). However, the chimpanzee DZ twinning rate (2.36%) was over twice the human average, and higher than all but the fertility-enhanced human populations of Nigeria. Similarly high twinning rates among African chimpanzees indicated that these estimates were not artifacts of captivity. Log-linear analyses of maternal and paternal effects on recurrent twinning indicated that females who twinned previously had recurrence risks five times greater than average, while evidence for a paternal twinning effect was weak. Chimpanzee twinning rates appear to be elevated relative to corresponding estimated human rates, making twinning and possibly heteropaternity more important features of chimpanzee reproductive biology than previously recognized.

  20. Estimating twin concordance for bivariate competing risks twin data

    DEFF Research Database (Denmark)

    Scheike, Thomas Harder; Holst, Klaus Kähler; von Bornemann Hjelmborg, Jacob

    2014-01-01

    For twin time-to-event data, we consider different concordance probabilities, such as the casewise concordance that are routinely computed as a measure of the lifetime dependence/correlation for specific diseases. The concordance probability here is the probability that both twins have experienced...... over time, and covariates may be further influential on the marginal risk and dependence structure. We establish the estimators large sample properties and suggest various tests, for example, for inferring familial influence. The method is demonstrated and motivated by specific twin data on cancer...... the event of interest. Under the assumption that both twins are censored at the same time, we show how to estimate this probability in the presence of right censoring, and as a consequence, we can then estimate the casewise twin concordance. In addition, we can model the magnitude of within pair dependence...

  1. Confronting Twin Paradox Acceleration

    Science.gov (United States)

    Murphy, Thomas W.

    2016-05-01

    The resolution to the classic twin paradox in special relativity rests on the asymmetry of acceleration. Yet most students are not exposed to a satisfactory analysis of what exactly happens during the acceleration phase that results in the nonaccelerated observer's more rapid aging. The simple treatment presented here offers both graphical and quantitative solutions to the problem, leading to the correct result that the acceleration-induced age gap is 2Lβ years when the one-way distance L is expressed in light-years and velocity β ≡v/c .

  2. Holographic twin Higgs model.

    Science.gov (United States)

    Geller, Michael; Telem, Ofri

    2015-05-15

    We present the first realization of a "twin Higgs" model as a holographic composite Higgs model. Uniquely among composite Higgs models, the Higgs potential is protected by a new standard model (SM) singlet elementary "mirror" sector at the sigma model scale f and not by the composite states at m_{KK}, naturally allowing for m_{KK} beyond the LHC reach. As a result, naturalness in our model cannot be constrained by the LHC, but may be probed by precision Higgs measurements at future lepton colliders, and by direct searches for Kaluza-Klein excitations at a 100 TeV collider.

  3. Twins as a tool for evaluating the influence of genetic susceptibility in thyroid autoimmunity

    DEFF Research Database (Denmark)

    Brix, T H; Hegedüs, L

    2011-01-01

    irrefutable evidence of a genetic component in the aetiology of both Graves' disease and Hashimoto's thyroiditis, as well as for harbouring thyroid autoantibodies. Biometric modelling shows that approximately 75% of the total phenotypic variance in autoimmune thyroid disease is due to genetic effects. Despite...... the well known gender difference in the prevalence of autoimmune thyroid disease, the analyzes suggest that it is the same set of genes that operate in males and females. The lack of complete phenotypic concordance in monozygotic twin pairs indicates that also environmental and/or epigenetic factors...... are of importance. The impact of specific environmental and epigenetic exposures can be evaluated by investigating disease discordant twin pairs. Our studies show that skewed X chromosome inactivation is associated with clinically overt AITD but not with the presence of TPOAb in euthyroid individuals. It is now...

  4. Transformation: From Twin to Individual

    Science.gov (United States)

    Magagna, Jeanne

    2007-01-01

    This article explores some of the complexities of psychotherapy with an identical twin. The difficulty of developing in psychotherapy while so much of what is oneself is located in the other twin will also be explored. The use of the countertransference as a therapeutic method will be considered as the young person develops her unique, separate…

  5. Twin Studies of Atopic Dermatitis

    DEFF Research Database (Denmark)

    Elmose, Camilla; Thomsen, Simon Francis

    2015-01-01

    Aim. The aim of this study was to conduct a systematic review of population-based twin studies of (a) the concordance and heritability of AD and (b) the relationship between AD and asthma and, furthermore, to reinterpret findings from previous twin studies in the light of the emerging knowledge a...

  6. Twin methodology in epigenetic studies

    DEFF Research Database (Denmark)

    Tan, Qihua; Christiansen, Lene; von Bornemann Hjelmborg, Jacob

    2015-01-01

    Since the final decades of the last century, twin studies have made a remarkable contribution to the genetics of human complex traits and diseases. With the recent rapid development in modern biotechnology of high-throughput genetic and genomic analyses, twin modelling is expanding from analysis ...

  7. Twin Higgs WIMP Dark Matter

    CERN Document Server

    García, Isabel García; March-Russell, John

    2015-01-01

    Dark matter (DM) without a matter asymmetry is studied in the context of Twin Higgs (TH) theories in which the LHC naturalness problem is addressed. These possess a twin sector related to the Standard Model (SM) by a (broken) $\\mathbb{Z}_2$ symmetry, and interacting with the SM via a specific Higgs portal. We focus on the minimal realisation of the TH mechanism, the Fraternal Twin Higgs, with only a single generation of twin quarks and leptons, and $SU(3)'\\times SU(2)'$ gauge group. We show that a variety of natural twin-WIMP DM candidates are present (directly linked to the weak scale by naturalness), the simplest and most attractive being the $\\tau^\\prime$ lepton with a mass $m_{\\tau^\\prime} > m_{\\rm Higgs}/2$, although spin-1 $W^{\\prime\\pm}$ DM and multicomponent DM are also possible (twin baryons are strongly disfavoured by tuning). We consider in detail the dynamics of the possibly (meta)stable glueballs in the twin sector, the nature of the twin QCD phase transition, and possible new contributions to th...

  8. Hypertensive disorders in twin pregnancy

    NARCIS (Netherlands)

    J.G. Santema (Job); E. Koppelaar (Elin); H.C.S. Wallenburg (Henk)

    1995-01-01

    textabstractObjective: To compare the incidence and severity of pregnancy-induced hypertensive disorders in twin pregnancy and in singleton gestation. Study design: Case-control study in the setting of a University Hospital. Each pregnancy of a consecutive series of 187 twin pregnancies attending th

  9. ETV6-RUNX1 (+) Acute Lymphoblastic Leukaemia in Identical Twins.

    Science.gov (United States)

    Ford, Anthony M; Greaves, Mel

    2017-01-01

    Acute leukaemia is the major subtype of paediatric cancer with a cumulative risk of 1 in 2000 for children up to the age of 15 years. Childhood acute lymphoblastic leukaemia (ALL) is a biologically and clinically diverse disease with distinctive subtypes; multiple chromosomal translocations exist within the subtypes and each carries its own prognostic relevance. The most common chromosome translocation observed is the t(12;21) that results in an in-frame fusion between the first five exons of ETV6 (TEL) and almost the entire coding region of RUNX1 (AML1).The natural history of childhood ALL is almost entirely clinically silent and is well advanced at the point of diagnosis. It has, however, been possible to backtrack this process through molecular analysis of appropriate clinical samples: (i) leukaemic clones in monozygotic twins that are either concordant or discordant for ALL; (ii) archived neonatal blood spots or Guthrie cards from individuals who later developed leukaemia; and (iii) stored, viable cord blood cells.Here, we outline our studies on the aetiology and pathology of childhood ALL that provide molecular evidence for a monoclonal, prenatal origin of ETV6-RUNX1+ leukaemia in monozygotic identical twins. We provide mechanistic support for the concept that altered patterns of infection during early childhood can deliver the necessary promotional drive for the progression of ETV6-RUNX1+ pre-leukaemic cells into a postnatal overt leukaemia.

  10. A Computational Discriminability Analysis on Twin Fingerprints

    Science.gov (United States)

    Liu, Yu; Srihari, Sargur N.

    Sharing similar genetic traits makes the investigation of twins an important study in forensics and biometrics. Fingerprints are one of the most commonly found types of forensic evidence. The similarity between twins’ prints is critical establish to the reliability of fingerprint identification. We present a quantitative analysis of the discriminability of twin fingerprints on a new data set (227 pairs of identical twins and fraternal twins) recently collected from a twin population using both level 1 and level 2 features. Although the patterns of minutiae among twins are more similar than in the general population, the similarity of fingerprints of twins is significantly different from that between genuine prints of the same finger. Twins fingerprints are discriminable with a 1.5%~1.7% higher EER than non-twins. And identical twins can be distinguished by examine fingerprint with a slightly higher error rate than fraternal twins.

  11. Dramatically different dizygotic twins: will we include them in Research? Twin research reviews: congenital anomalies, mirror-image effects in conjoined twins, older mothers of twins; Twin statistics: 'Massachusetts, land of twins'; Tribute: Dr Victor A. McKusick.

    Science.gov (United States)

    Segal, Nancy L

    2008-10-01

    The increased frequency of interracial marriage is a likely source of unusual-looking dizygotic (DZ) twins. Some members of DZ twin pairs born to mixed-race couples inherit very different physical features from their parents. This raises several questions, such as: Will researchers wish to include such twins in their ongoing studies? Next, new twin research concerned with congenital anomalies, mirror-image effects in conjoined twins and older mothers of twins will be reviewed. New statistics on twinning rates in Massachusetts will also be summarized, followed by a tribute to the late medical geneticist Dr. Victor A. McKusick.

  12. A Comparison of the Attempts of Quantum Discord and Quantum Entanglement to Capture Quantum Correlations

    CERN Document Server

    Al-Qasimi, Asma

    2010-01-01

    Measurements of Quantum Systems disturb their states. To quantify this non-classical characteristic, Zurek and Ollivier introduced the quantum discord, a quantum correlation which can be nonzero even when entanglement in the system is zero. Discord has aroused great interest as a resource that is more robust against the effects of decoherence and offers exponential speed up of certain computational algorithms. Here, we study general two-level bipartite systems and give general results on the relationship between discord, entanglement, and linear entropy, and identify the states for which discord takes a maximal value for a given entropy or entanglement, thus placing strong bounds on entanglement-discord and entropy-discord relations. We find out that although discord and entanglement are identical for pure states, they differ when generalized to mixed states as a result of the difference in the method of generalization.

  13. The Impact of the in utero and Early Postnatal Environments on Grey and White Matter Volume: A Study with Adolescent Monozygotic Twins.

    Science.gov (United States)

    Levesque, Melissa L; Fahim, Cherine; Ismaylova, Elmira; Verner, Marie-Pier; Casey, Kevin F; Vitaro, Frank; Brendgen, Mara; Dionne, Ginette; Boivin, Michel; Tremblay, Richard E; Booij, Linda

    2015-01-01

    Prenatal and early postnatal adversities have been shown to be associated with brain development. However, we do not know how much of this association is confounded by genetics, nor whether the postnatal environment can moderate the impact of in utero adversity. This study used a monozygotic (MZ) twin design to assess (1) the association between birth weight (BW) and brain volume in adolescence, (2) the association between within-twin-pair BW discordance and brain volume discordance in adolescence, and (3) whether the association between BW and brain volume in adolescence is mediated or moderated by early negative maternal parenting behaviours. These associations were assessed in a sample of 108 MZ twins followed longitudinally since birth and scanned at age 15. The total grey matter (GM) and white matter (WM) volumes were obtained using the Diffeomorphic Anatomical Registration Through Exponentiated Lie Algebra (DARTEL) toolbox in the Statistical Parametric Mapping version 8 (SPM8). We found that the BW was significantly associated with the total GM and WM volumes, particularly in the superior frontal gyrus and thalamus. Within-twin-pair discordance in BW was also significantly associated with within-pair discordance in both the GM and the WM volumes, supporting the hypothesis that the specific in utero environment is associated with brain development independently of genetics. Early maternal hostile parenting behaviours and depressive symptoms were associated with total GM volume but not WM volume. Finally, greater early maternal hostility may moderate the association between the BW and GM volume in adolescence, since the positive association between the BW and total GM volume appeared stronger at higher levels of maternal hostility (trend). Together, these findings support the importance of the in utero and early environments for brain development. © 2015 S. Karger AG, Basel.

  14. [Hereditary phaeochromocytoma in twins].

    Science.gov (United States)

    Tóth, Géza; Patócs, Attila; Tóth, Miklós

    2016-08-01

    Phaeochromocytoma is a tumor of the catecholamine-producing cells of the adrenal gland. Extraadrenal phaeochromocytomas are frequently called paragangliomas. The majority of phaeochromocytomas are sporadic, however, about 25-30% are caused by genetic mutation. These tumor are frequently referred as hereditary phaeochromocytomas/paragangliomas. Their incidence increases continuously which can be attributed to availability of genetic examination and to the discovery of novel genes. The 47-year-old female patient underwent abdominal computed tomography which revealed bilateral adrenal gland enlargement. Abdominal magnetic resonance imaging, the 131-I- metaiodobenzylguanidine scintigraphy, urinary catecholamines and serum chomogranin A measurements confirmed the diagnosis of bilateral phaeochromocytomas. The genetically identical twin sister of the patient was also diagnosed with hormonally active bilateral phaechromocytoma, suggesting the genetic origin of phaeochromocytoma. Mutation screening confirmed a germline mutation of the transmembrane protein 127 tumorsupressor gene in both patients. Both patients underwent cortical-sparing adrenalectomy. The adrenal gland with the larger tumor was totally resected, while in the opposite side only the tumor was resected and a small part of the cortex was saved. After the operation urinary catecholamines and serum chromogranin A returned to normal in both patients. Adrenocortical deficiency was absent in the first patient, but her sister developed adrenal insufficiency requiring glucocorticoid replacement. To the best of the authors' knowledge phaeochromocytoma affecting twins has never been described earlier. Genetic examination performed in siblings confirmed the presence of the mutant gene through four generations. Orv. Hetil., 2016, 157(33), 1326-1330.

  15. Entanglement and discord assisted entropic uncertainty relations under decoherence

    Science.gov (United States)

    Yao, ChunMei; Chen, ZhiHua; Ma, ZhiHao; Severini, Simone; Serafini, Alessio

    2014-09-01

    The uncertainty principle is a crucial aspect of quantum mechanics. It has been shown that quantum entanglement as well as more general notions of correlations, such as quantum discord, can relax or tighten the entropic uncertainty relation in the presence of an ancillary system. We explored the behaviour of entropic uncertainty relations for system of two qubits-one of which subjects to several forms of independent quantum noise, in both Markovian and non-Markovian regimes. The uncertainties and their lower bounds, identified by the entropic uncertainty relations, increase under independent local unital Markovian noisy channels, but they may decrease under non-unital channels. The behaviour of the uncertainties (and lower bounds) exhibit periodical oscillations due to correlation dynamics under independent non-Markovian reservoirs. In addition, we compare different entropic uncertainty relations in several special cases and find that discord-tightened entropic uncertainty relations offer in general a better estimate of the uncertainties in play.

  16. Quantum Discord for Investigating Quantum Correlations without Entanglement in Solids

    CERN Document Server

    Rong, Xing; Jin, Fangzhou; Geng, Jianpei; Feng, Pengbo; Xu, Nanyang; Wang, Ya; Ju, Chenyong; Shi, Mingjun; Du, Jiangfeng

    2012-01-01

    Quantum systems unfold diversified correlations which have no classical counterparts. These quantum correlations have various different facets. Quantum entanglement, as the most well known measure of quantum correlations, plays essential roles in quantum information processing. However, it has recently been pointed out that quantum entanglement cannot describe all the nonclassicality in the correlations. Thus the study of quantum correlations in separable states attracts widely attentions. Herein, we experimentally investigate the quantum correlations of separable thermal states in terms of quantum discord. The sudden change of quantum discord is observed, which captures ambiguously the critical point associated with the behavior of Hamiltonian. Our results display the potential applications of quantum correlations in studying the fundamental properties of quantum system, such as quantum criticality of non-zero temperature.

  17. Markovian Classicality from Zero Discord for Bipartite Quantum Systems

    CERN Document Server

    Arsenijevic, M; Dugic, M

    2012-01-01

    Modern quantum information theory provides new tools for investigating the decoherence-induced "classicality" of open quantum systems. Recent observation that almost all quantum states bear non-classical correlations [A. Ferraro {\\it et al}, Phys. Rev. A {\\bf 81}, 052318 (2010)] distinguishes the zero-discord classicality essentially as a pathology of the Markovian bipartite-systems realm. Nevertheless, we formally construct such a classical model and its variant that represents a matter-of-principle formal proof, i.e. a sufficient condition for the, otherwise not obvious, existence of the Markovian zero-discord classicality. A need for the more elaborate and more systematic search for the alternative such models reveals we are still learning about the very meaning of "classicality" in the realm of open quantum systems.

  18. Markovian Zero-Discord Classicality for Bipartite Quantum Systems

    CERN Document Server

    Arsenijevic, M; Dugic, M

    2012-01-01

    Recent observation that almost all quantum states bear nonclassical correlations [A. Ferraro et al, Phys. Rev. A 81, 052318 (2010)] distinguishes the zero-discord classicality essentially as a rareness of the Markovian bipartite systems realm. This seems to be in contrast with decoherence-theory established classicality where classical states are robust and unavoidable. Nevertheless, we formally construct such a classical model and its variant that represents a matter-of-principle formal proof, i.e. a sufficient condition for the, otherwise not obvious, existence of the Markovian zero-discord classicality. Rigorous analysis suggests there is no alternative to classical model, aside approximate model which follows from relaxing rigid quantum information constraints on classical model. A need for the more elaborate and more systematic search for the alternative such models (if there any) reveals we are still learning about the very meaning of "classicality" in the realm of open quantum systems.

  19. Parameter-Free Search of Time-Series Discord

    Institute of Scientific and Technical Information of China (English)

    Wei Luo; Marcus Gallagher; Janet Wiles

    2013-01-01

    Time-series discord is widely used in data mining applications to characterize anomalous subsequences in time series.Compared to some other discord search algorithms,the direct search algorithm based on the recurrence plot shows the advantage of being fast and parameter free.The direct search algorithm,however,relies on quasi-periodicity in input time series,an assumption that limits the algorithm's applicability.In this paper,we eliminate the periodicity assumption from the direct search algorithm by proposing a reference function for subsequences and a new sampling strategy based on the reference function.These measures result in a new algorithm with improved efficiency and robustness,as evidenced by our empirical evaluation.

  20. Probing quantum discord in a Heisenberg dimer compound.

    Science.gov (United States)

    Chakraborty, Tanmoy; Singh, Harkirat; Singh, Sourabh; Gopal, Radha Krishna; Mitra, Chiranjib

    2013-10-23

    A quantitative estimation of quantum discord is performed for a Heisenberg spin 1/2 dimer compound (NH4CuPO4, H2O) by means of experimental magnetic and thermal measurements. Magnetic susceptibility and specific heat data were collected for NH4CuPO4, H2O and analyzed within the framework of the Heisenberg isolated dimer model. Internal energy as a function of temperature is obtained by integrating the specific heat versus temperature data. Subsequently, quantum discord, total correlations and spin-spin correlation function are quantified from susceptibility and internal energy and plotted as a function of temperature. Violation of Bell's inequality is also tested for NH4CuPO4, H2O via both experimental susceptibility and specific heat data signifying the presence of entanglement.

  1. General monogamy property of global quantum discord and the application

    Energy Technology Data Exchange (ETDEWEB)

    Liu, Si-Yuan [Institute of Modern Physics, Northwest University, Xian 710069 (China); Beijing National Laboratory for Condensed Matter Physics, Institute of Physics, Chinese Academy of Sciences, Beijing 100190 (China); Zhang, Yu-Ran, E-mail: yrzhang@iphy.ac.cn [Beijing National Laboratory for Condensed Matter Physics, Institute of Physics, Chinese Academy of Sciences, Beijing 100190 (China); Zhao, Li-Ming [Beijing National Laboratory for Condensed Matter Physics, Institute of Physics, Chinese Academy of Sciences, Beijing 100190 (China); Yang, Wen-Li, E-mail: wlyang@nwu.edu.cn [Institute of Modern Physics, Northwest University, Xian 710069 (China); Fan, Heng, E-mail: hfan@iphy.ac.cn [Beijing National Laboratory for Condensed Matter Physics, Institute of Physics, Chinese Academy of Sciences, Beijing 100190 (China); Collaborative Innovation Center of Quantum Matter, Beijing (China)

    2014-09-15

    We provide a family of general monogamy inequalities for global quantum discord (GQD), which can be considered as an extension of the usual discord monogamy inequality. It can be shown that those inequalities are satisfied under the similar condition for the holding of usual monogamy relation. We find that there is an intrinsic connection among them. Furthermore, we present a different type of monogamy inequality and prove that it holds under the condition that the bipartite GQDs do not increase when tracing out some subsystems. We also study the residual GQD based on the second type of monogamy inequality. As applications of those quantities, we investigate the GQDs and residual GQD in characterizing the quantum phase transition in the transverse field Ising model.

  2. Food Preference Patterns in a UK Twin Cohort.

    Science.gov (United States)

    Pallister, Tess; Sharafi, Mastaneh; Lachance, Genevieve; Pirastu, Nicola; Mohney, Robert P; MacGregor, Alex; Feskens, Edith J M; Duffy, Valerie; Spector, Tim D; Menni, Cristina

    2015-12-01

    Food liking-disliking patterns may strongly influence food choices and health. Here we assess: (1) whether food preference patterns are genetic/environmentally driven; and (2) the relationship between metabolomics profiles and food preference patterns in a large population of twins. 2,107 individuals from TwinsUK completed an online food and lifestyle preference questionnaire. Principle components analysis was undertaken to identify patterns of food liking-disliking. Heritability estimates for each liking pattern were obtained by structural equation modeling. The correlation between blood metabolomics profiles (280 metabolites) and each food liking pattern was assessed in a subset of 1,491 individuals and replicated in an independent subset of monozygotic twin pairs discordant for the liking pattern (65 to 88 pairs). Results from both analyses were meta-analyzed. Four major food-liking patterns were identified (Fruit and Vegetable, Distinctive Tastes, Sweet and High Carbohydrate, and Meat) accounting for 26% of the total variance. All patterns were moderately heritable (Fruit and Vegetable, h(2)[95% CI]: 0.36 [0.28; 0.44]; Distinctive Tastes: 0.58 [0.52; 0.64]; Sweet and High Carbohydrate: 0.52 [0.45, 0.59] and Meat: 0.44 [0.35; 0.51]), indicating genetic factors influence food liking-disliking. Overall, we identified 14 significant metabolite associations (Bonferroni p Food preferences follow patterns based on similar taste and nutrient characteristics and these groupings are strongly determined by genetics. Food preferences that are strongly genetically determined (h(2) ≥ 0.40), such as for meat and distinctive-tasting foods, may influence intakes more substantially, as demonstrated by the metabolomic associations identified here.

  3. Twins and Kindergarten Separation: Divergent Beliefs of Principals, Teachers, Parents, and Twins

    Science.gov (United States)

    Gordon, Lynn Melby

    2015-01-01

    Should principals enforce mandatory separation of twins in kindergarten? Do school separation beliefs of principals differ from those of teachers, parents of twins, and twins themselves? This survey questioned 131 elementary principals, 54 kindergarten teachers, 201 parents of twins, and 112 twins. A majority of principals (71%) believed that…

  4. Direct scheme for measuring the geometric quantum discord

    CERN Document Server

    Jin, Jia-sen; Yu, Chang-shui; Song, He-shan

    2011-01-01

    We propose a scheme to directly measure the exact value of geometric quantum discord of an arbitrary two-qubit state. We only need to perform the projective measurement in the all anti-symmetric subspace and our scheme is parametrically efficient in contrast to the widely adopted quantum state tomography scheme in the sense of less parameter estimations and projectors. Moreover, the present scheme can be easily realized with the current experimental techniques.

  5. Discordant Dry Eye Disease (An American Ophthalmological Society Thesis).

    Science.gov (United States)

    Shtein, Roni M; Harper, Daniel E; Pallazola, Vincent; Harte, Steven E; Hussain, Munira; Sugar, Alan; Williams, David A; Clauw, Daniel J

    2016-08-01

    To improve understanding of dry eye disease and highlight a subgroup of patients who have a component of central sensitization and neuropathic pain contributing to their condition. Prospective, cross-sectional, IRB-approved study comparing isolated dry eye disease (n=48) to fibromyalgia (positive control; n=23) and healthy (negative control; n=26) individuals with ocular surface examination, corneal confocal microscopy, quantitative sensory testing, and self-reported ocular symptoms and systemic associations. A subset of patients also underwent skin biopsy and/or brain neuroimaging. Dry eye patients were split into concordant (ie, those with dry eyes on examination) and discordant (ie, those with dry eye symptoms but normal examination) subgroups for further analysis. We hypothesized that on the systemic measures included, concordant patients would resemble healthy controls, whereas discordant patients would show evidence of centralized mechanisms similar to fibromyalgia. Schirmer test and Ocular Surface Disease Index (OSDI) scores indicated significant decreases in tear production (Schirmer: healthy, 18.5±8.2 mm; dry, 11.2±5.4 mm; fibromyalgia, 14.4±7.5; P<.001) and increases in self-reported dry eye symptoms (OSDI: healthy, 1.9±3.0; dry, 20.3±17.7; fibromyalgia, 20.3±17.1; P<.001) in the dry eye and fibromyalgia patients, compared to controls. The discordant subgroup had decreased corneal nerve density and decreased visual quality-of-life scores, similar to patients with fibromyalgia. Concordant patients were more similar to healthy controls on these measures. Individuals with discordant dry eye may have a central pathophysiologic mechanism leading to their eye pain symptoms, which could be an important factor to consider in treatment of chronic idiopathic dry eye.

  6. Evolution of the Australian-Antarctic discordance since Miocene time

    OpenAIRE

    Marks, Karen M.; Stock, Joann M.; Quinn, Katherine J.

    1999-01-01

    In this study we chronicle the development of the Australian-Antarctic discordance (AAD), the crenelated portion of the Southeast Indian Ridge between ∼120° and 128°E, since anomaly 6y time (19 Ma). We reconstruct satellite-derived marine gravity fields and depth anomalies at selected times by first removing anomalies overlying seafloor younger than the selected age, and then rotating the remaining anomalies through improved finite rotations based on a very detailed set of magnetic anomaly id...

  7. Discordance between CT and angiography in the PIOPED II study.

    Science.gov (United States)

    Wittram, Conrad; Waltman, Arthur C; Shepard, Jo-Anne O; Halpern, Elkan; Goodman, Lawrence R

    2007-09-01

    To retrospectively evaluate the causes of discordant computed tomographic (CT)-angiographic readings from the Prospective Investigation of Pulmonary Embolism Diagnosis, or PIOPED, II study. Institutional review board approval was obtained for this HIPAA-compliant study. Of 1036 patients suspected of having pulmonary embolism who were examined with CT, 226 underwent angiography; 206 patients had concordant results and 20 had discordant results according to two independent readers. Of these 20 patients, 10 were men and 10 were women (mean age, 49 years). Among the 20 studies with discordant results, central readers identified seven cases as negative and 13 as positive for pulmonary embolism at CT; these findings were reversed at angiography. Side-by-side comparisons of discordant studies were performed in consensus. The time between CT and angiography and all locations of pulmonary embolism vascular territory were recorded. The McNemar binomial test was used. One patient had false-positive findings at angiography, 13 patients had false-negative findings at angiography, and two patients had false-negative findings at CT. Four patients had true-negative findings at CT; however, findings were positive for thrombus at angiography. The sensitivity for the detection of pulmonary embolism was 87% for CT and 32% for angiography (P=.007). The largest missed thrombus at angiography was subsegmental in eight patients, segmental in two patients, and lobar in three patients; at CT it was subsegmental in two patients. The mean time between CT and angiography was 40 hours+/-21 (standard deviation) (range, 10-97 hours). In the interval between CT and angiography, thrombi can remain the same, resolve, develop, or result from angiography. Copyright (c) RSNA, 2007.

  8. MULTIPLE CRITERIA DECISION MAKING:DISCORDANT PREFERENCES AND PROBLEM DESCRIPTION

    Institute of Scientific and Technical Information of China (English)

    Alexey B.PETROVSKY

    2007-01-01

    There are many practical decision problems where decision makers' preferences may be inconsistent and contradictory.In this paper,new methods for ordering and classifying multi-attribute objects by discordant collective preferences are suggested.These methods are based on the theory of multiset metric spaces.The proposed techniques are applied to ranking companies and a competitive selection of projects,which are estimated by several experts upon multiple qualitative criteria.

  9. Paternal age and telomere length in twins

    DEFF Research Database (Denmark)

    Hjelmborg, Jacob B; Dalgård, Christine; Mangino, Massimo

    2015-01-01

    . Based on two independent (discovery and replication) twin studies, comprising 889 twin pairs, we show an increase in the resemblance of leukocyte telomere length between dizygotic twins of older fathers, which is not seen in monozygotic twins. This phenomenon might result from a paternal age...

  10. Recipient twin limb ischemia with postnatal onset.

    Science.gov (United States)

    Broadbent, Roland Spencer

    2007-02-01

    After the occurrence of 3 local cases of limb ischemia in newborn twins, we reviewed the literature to investigate this combination systematically. This review reveals a distinct condition: postnatal onset limb ischemia affecting recipient twins in twin-twin transfusion syndrome.

  11. Best Practices for Twin Placement in School

    Science.gov (United States)

    Lacina, Jan

    2012-01-01

    The children's book "Two Is for Twins" celebrates twins and illustrates the many "twos" in a child's world. The uniqueness of twos does not have to mean separate classrooms for twins in child development programs, preschool, or elementary school settings. With recent dramatic increases in the US twin population, how should educators address the…

  12. Best Practices for Twin Placement in School

    Science.gov (United States)

    Lacina, Jan

    2012-01-01

    The children's book "Two Is for Twins" celebrates twins and illustrates the many "twos" in a child's world. The uniqueness of twos does not have to mean separate classrooms for twins in child development programs, preschool, or elementary school settings. With recent dramatic increases in the US twin population, how should educators address the…

  13. Twin Higgs Asymmetric Dark Matter.

    Science.gov (United States)

    García García, Isabel; Lasenby, Robert; March-Russell, John

    2015-09-18

    We study asymmetric dark matter (ADM) in the context of the minimal (fraternal) twin Higgs solution to the little hierarchy problem, with a twin sector with gauged SU(3)^{'}×SU(2)^{'}, a twin Higgs doublet, and only third-generation twin fermions. Naturalness requires the QCD^{'} scale Λ_{QCD}^{'}≃0.5-20  GeV, and that t^{'} is heavy. We focus on the light b^{'} quark regime, m_{b^{'}}≲Λ_{QCD}^{'}, where QCD^{'} is characterized by a single scale Λ_{QCD}^{'} with no light pions. A twin baryon number asymmetry leads to a successful dark matter (DM) candidate: the spin-3/2 twin baryon, Δ^{'}∼b^{'}b^{'}b^{'}, with a dynamically determined mass (∼5Λ_{QCD}^{'}) in the preferred range for the DM-to-baryon ratio Ω_{DM}/Ω_{baryon}≃5. Gauging the U(1)^{'} group leads to twin atoms (Δ^{'}-τ^{'}[over ¯] bound states) that are successful ADM candidates in significant regions of parameter space, sometimes with observable changes to DM halo properties. Direct detection signatures satisfy current bounds, at times modified by dark form factors.

  14. Visual Bias Predicts Gait Adaptability in Novel Sensory Discordant Conditions

    Science.gov (United States)

    Brady, Rachel A.; Batson, Crystal D.; Peters, Brian T.; Mulavara, Ajitkumar P.; Bloomberg, Jacob J.

    2010-01-01

    We designed a gait training study that presented combinations of visual flow and support-surface manipulations to investigate the response of healthy adults to novel discordant sensorimotor conditions. We aimed to determine whether a relationship existed between subjects visual dependence and their postural stability and cognitive performance in a new discordant environment presented at the conclusion of training (Transfer Test). Our training system comprised a treadmill placed on a motion base facing a virtual visual scene that provided a variety of sensory challenges. Ten healthy adults completed 3 training sessions during which they walked on a treadmill at 1.1 m/s while receiving discordant support-surface and visual manipulations. At the first visit, in an analysis of normalized torso translation measured in a scene-movement-only condition, 3 of 10 subjects were classified as visually dependent. During the Transfer Test, all participants received a 2-minute novel exposure. In a combined measure of stride frequency and reaction time, the non-visually dependent subjects showed improved adaptation on the Transfer Test compared to their visually dependent counterparts. This finding suggests that individual differences in the ability to adapt to new sensorimotor conditions may be explained by individuals innate sensory biases. An accurate preflight assessment of crewmembers biases for visual dependence could be used to predict their propensities to adapt to novel sensory conditions. It may also facilitate the development of customized training regimens that could expedite adaptation to alternate gravitational environments.

  15. Brain Structure and Function Differences in Monozygotic Twins: Possible Effects of Breast Cancer Chemotherapy

    Science.gov (United States)

    Ferguson, Robert J.; McDonald, Brenna C.; Saykin, Andrew J.; Ahles, Tim A.

    2012-01-01

    Purpose Adjuvant chemotherapy has been associated with mild cognitive decline among a subset of breast cancer survivors. Late cognitive effects after chemotherapy can have a deleterious impact on survivor quality of life and functional health; however, the etiology of chemotherapy-related cognitive dysfunction remains unknown. Patients and Methods We present a case of monozygotic twins who are discordant for breast cancer and chemotherapy exposure (ie, one twin contracted breast cancer and underwent chemotherapy, and the other had no breast cancer). As part of a larger study, each was evaluated with standardized, self-report measures of cognitive function, standard neuropsychological tests, and structural and functional magnetic resonance imaging (MRI). Results Results indicated small differences in neuropsychological test performance but striking contrasts in self-reported cognitive complaints and structural and functional MRI images. Specifically, the twin who underwent chemotherapy had substantially more subjective cognitive complaints, more white matter hyperintensities on MRI, and an expanded spatial extent of brain activation during working memory processing than her nonaffected twin. Conclusion This case illustrates possible physiologic mechanisms that could produce long-term cognitive complaints among chemotherapy recipients and help formulate hypotheses for further empirical study in the area of chemotherapy-associated cognitive dysfunction. PMID:17761972

  16. The vector-like twin Higgs

    Science.gov (United States)

    Craig, Nathaniel; Knapen, Simon; Longhi, Pietro; Strassler, Matthew

    2016-07-01

    We present a version of the twin Higgs mechanism with vector-like top partners. In this setup all gauge anomalies automatically cancel, even without twin leptons. The matter content of the most minimal twin sector is therefore just two twin tops and one twin bottom. The LHC phenomenology, illustrated with two example models, is dominated by twin glueball decays, possibly in association with Higgs bosons. We further construct an explicit four-dimensional UV completion and discuss a variety of UV completions relevant for both vector-like and fraternal twin Higgs models.

  17. The Vector-like Twin Higgs

    CERN Document Server

    Craig, Nathaniel; Longhi, Pietro; Strassler, Matthew

    2016-01-01

    We present a version of the twin Higgs mechanism with vector-like top partners. In this setup all gauge anomalies automatically cancel, even without twin leptons. The matter content of the most minimal twin sector is therefore just two twin tops and one twin bottom. The LHC phenomenology, illustrated with two example models, is dominated by twin glueball decays, possibly in association with Higgs bosons. We further construct an explicit four-dimensional UV completion and discuss a variety of UV completions relevant for both vector-like and fraternal twin Higgs models.

  18. Perinatal outcome of twin pregnancies delivered in a teaching hospital Resultado perinatal de gestações gemelares com parto em hospital universitário

    Directory of Open Access Journals (Sweden)

    Renata Almeida de Assunção

    2010-01-01

    Full Text Available OBJECTIVE: This study aimed to evaluate the perinatal outcome of twin pregnancies delivered in a tertiary teaching hospital according to chorionicity. METHODS: A retrospective study involving 289 twin pregnancies delivered from January 2003 to December 2006 was carried out. Maternal and perinatal data were obtained from hospital charts and delivery logs. Chorionicity was determined by ultrasonography or histopathological study. RESULTS: Incidence of twin gestations was 3.4% and 96.4% were spontaneously conceived. 60.5% were dichorionic (DC, 30.8% of monochorionic diamniotic (MCDA, 6.6% monochorionic monoamniotic (MCMA and for 2.1% chorionicity was unknown. The mean gestation age at delivery was respectively 35.4, 33.6, 32.9 for DC, MCDA and MCMA. The mean birth weight was 2.171, 1.832 and 1.760 g respectively for DC, MC and MCMA. The proportion of fetuses delivered with less than 34 weeks in DC was of 21.7%, while in MCDA it was of 39.3% and in MCMA of 42.1%. Birth weight below the 10th centile occurred in 15.7% for DC, 22.5% for MCDA and 26.3% in MCMA. Congenital anomalies were observed in 21.3% in monochorionic and in 7.4% in the dichorionic. Lenght of hospital stay was shorter for DC when compared to MCDA and MCMA twins (13.1, 17.3 and 23.3 days, respectively. The proportion of twin pregnancies with both babies discharged alive were 85.7% in DC and 61.1% in MC. CONCLUSION: The rate of preterm deliveries and low birth weight is higher in monochorionic pregnancies when compared to dichorionic twins. However, when adjusted for complications such as fetal abnormalities and twin-twin transfusion syndrome, double survival rates were similar in the two groups.OBJETIVO: Avaliar o resultado perinatal nas gestações gemelares com partos em hospital universitário segundo a corionicidade. MÉTODOS: Estudo retrospectivo de 289 gestações gemelares com partos no Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, no per

  19. Fivefold twinned boron carbide nanowires.

    Science.gov (United States)

    Fu, Xin; Jiang, Jun; Liu, Chao; Yuan, Jun

    2009-09-01

    Chemical composition and crystal structure of fivefold twinned boron carbide nanowires have been determined by electron energy-loss spectroscopy and electron diffraction. The fivefold cyclic twinning relationship is confirmed by systematic axial rotation electron diffraction. Detailed chemical analysis reveals a carbon-rich boron carbide phase. Such boron carbide nanowires are potentially interesting because of their intrinsic hardness and high temperature thermoelectric property. Together with other boron-rich compounds, they may form a set of multiply twinned nanowire systems where the misfit strain could be continuously tuned to influence their mechanical properties.

  20. Failure of vincristine induce twinning

    Science.gov (United States)

    Binder, M.

    1984-01-01

    Mammalian ova do not contain axes of symmetry from which are derived embryonic axes of symmetry. Mammalian axis determination is an early embryologic event occurring at about the time that monozygous twinning in mice. (Kaufma MH & O'Shea KS, 1978, Nature 276:707) and an attempt was made to reproduce their work in several strains of mice. Over 3200 embryos were examined without any twins being found. To rule out the possibility that vincristine caused twinning plus some lethal malformation (with subsequent resorption of the embryo) the embryos were examined 36-60 hours after vincristine treatment.