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https://www.readbyqxmd.com/read/27903320/effects-of-intrauterine-environment-on-the-magnitude-of-differences-within-the-pairs-of-monozygotic-and-dizygotic-twins
#1
Małgorzata Waszak, Krystyna Cieślik, Marzena Skrzypczak-Zielińska, Marlena Szalata, Karolina Wielgus, Oliwia Zakerska-Banaszak, Grzegorz Bręborowicz, Ryszard Słomski
The aim of this study was to determine the effects of intrauterine environment on the magnitude of intrapair differences in six somatic traits of monozygotic (MZ) and dizygotic (DZ) twins (1,263 pairs; 424 MZ twins and 839 DZ twins). Differences in intrauterine environments of MZ twins enforced division of the research material into four groups: (1) MZ-MC-TTTS - MZ twins from monochorionic (MC) pregnancies with twin-to-twin transfusion syndrome (TTTS), (2) MZ-MC (without TTTS)-MZ twins from MC pregnancies without TTTS, (3) MZ-DC-MZ twins from dichorionic (DC) pregnancies, and (4) DZ-DZ twins...
December 1, 2016: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/27885296/outcome-of-twin-deliveries-at-a-tertiary-care-centre-of-eastern-nepal
#2
S Chaudhary, R R Singh, G S Shah, J Agrawal, S Kafle, L Shah
BACKGROUND: Twins, compared to singletons, have higher perinatal mortality and morbidity. The aim of this study was to describe the twinning rate, epidemiological variables and hospital outcome of twin deliveries and to find out ways of better management of twins in our part. METHODS: A retrospective evaluation of the outcome of 92 twin pregnancies during one year study period (1st January 2014 to 31st December 2014) was conducted at BPKIHS. Twins delivered within the institution were included but cases less than 28 weeks gestation were excluded...
May 2016: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/27884122/assessment-of-copy-number-variations-in-120-patients-with-poland-syndrome
#3
Carlotta Maria Vaccari, Elisa Tassano, Michele Torre, Stefania Gimelli, Maria Teresa Divizia, Maria Victoria Romanini, Simone Bossi, Ilaria Musante, Maura Valle, Filippo Senes, Nunzio Catena, Maria Francesca Bedeschi, Anwar Baban, Maria Grazia Calevo, Massimo Acquaviva, Margherita Lerone, Roberto Ravazzolo, Aldamaria Puliti
BACKGROUND: Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies. Most cases are sporadic, but familial recurrence, with different inheritance patterns, has been observed. The genetic etiology of PS remains unknown. Karyotyping and array-comparative genomic hybridization (CGH) analyses can identify genomic imbalances that can clarify the genetic etiology of congenital and neurodevelopmental disorders...
November 25, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27862284/dystonia-deafness-syndrome-caused-by-a-%C3%AE-actin-gene-mutation-and-response-to-deep-brain-stimulation
#4
Hendriekje Eggink, Martje E van Egmond, Corien C Verschuuren-Bemelmans, Marleen C Schönherr, Tom J de Koning, D L Marinus Oterdoom, J Marc C van Dijk, Marina A J Tijssen
INTRODUCTION: Dystonia-deafness syndrome is a distinct clinical presentation within the dystonia-spectrum. Although several genetic and acquired causes have been reported, etiology remains unknown in the majority of patients. OBJECTIVES: To describe two patients with dystonia-deafness syndrome due to a beta-actin gene mutation. METHODS: We report on disease course, genetic testing, and management of 2 patients, mother and daughter, presenting with dystonia-deafness syndrome...
November 8, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27859836/outcome-in-monochorionic-twin-pregnancies-with-selective-intrauterine-growth-restriction-according-to-the-umbilical-artery-doppler-pattern-of-the-smaller-twin-a-systematic-review-and-meta-analysis
#5
REVIEW
Danilo Buca, Giorgio Pagani, Giuseppe Rizzo, Alessandra Familiari, Maria Elena Flacco, Lamberto Manzoli, Marco Liberati, Francesco Fanfani, Giovanni Scambia, Francesco D'Antonio
OBJECTIVE: To explore the outcome of monochorionic (MC) twin pregnancies affected by selective intra-uterine growth restriction (sIUGR) according to the umbilical artery Doppler pattern of the smaller twin. METHODS: Medline, Embase, Cinhal and ClinicalTrials.gov databases (2000-2016) were searched. sIUGR was defined as the presence of one twin with estimated fetal weight and/or abdominal circumference less than 10(th) or 5(th) percentile and classified according to the umbilical artery Doppler flow pattern of the smaller twin (type I: persistently positive, type II: persistently absent/reversed, type III: intermittently absent/reversed)...
November 18, 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27836377/-prevention-of-spontaneous-preterm-birth-excluding-preterm-premature-rupture-of-membranes-guidelines-for-clinical-practice%C3%A2-%C3%A2-text-of-the-guidelines-short-text
#6
L Sentilhes, M-V Sénat, P-Y Ancel, E Azria, G Benoist, J Blanc, G Brabant, F Bretelle, S Brun, M Doret, C Ducroux-Schouwey, A Evrard, G Kayem, E Maisonneuve, L Marcellin, S Marret, N Mottet, S Paysant, D Riethmuller, P Rozenberg, T Schmitz, H Torchin, B Langer
OBJECTIVES: To determine the measures to prevent spontaneous preterm birth (excluding preterm premature rupture of membranes)and its consequences. MATERIALS AND METHODS: The PubMed database, the Cochrane Library and the recommendations from the French and foreign obstetrical societies or colleges have been consulted. RESULTS: In France, premature birth concerns 60,000 neonates every year (7.4 %), half of them are delivered after spontaneous onset of labor...
November 8, 2016: Journal de Gynécologie, Obstétrique et Biologie de la Reproduction
https://www.readbyqxmd.com/read/27834168/intra-arterial-calcifications-in-the-recipient-twin-in-twin-to-twin-transfusion-syndrome
#7
Syed Javed H Zaidi, Rupali Gandhi, Saad Siddiqui
Pulmonary artery, and rarely aortic, calcifications have been reported in sporadic case reports in the recipient twin of twin-to-twin transfusion syndrome. This presentation is more likely to be secondary to the haemodynamic alterations in the recipient twin, but must be differentiated from idiopathic infantile arterial calcification as the clinical implications, treatment, and prognosis may be drastically different.
November 11, 2016: Cardiology in the Young
https://www.readbyqxmd.com/read/27816039/internet-addiction-and-its-facets-the-role-of-genetics-and-the-relation-to-self-directedness
#8
Elisabeth Hahn, Martin Reuter, Frank M Spinath, Christian Montag
A growing body of research focuses on problematic behavior patterns related to the use of the Internet to identify contextual as well as individual risk factors of this new phenomenon called Internet addiction (IA). IA can be described as a multidimensional syndrome comprising aspects such as craving, development of tolerance, loss of control and negative consequences. Given that previous research on other addictive behaviors showed substantial heritability, it can be expected that the vulnerability to IA may also be due to a person's genetic predisposition...
October 24, 2016: Addictive Behaviors
https://www.readbyqxmd.com/read/27813120/prediction-of-neonatal-outcome-of-ttts-by-fetal-heart-and-doppler-ultrasound-parameters-before-and-after-laser-treatment
#9
Amélie Delabaere, France Leduc, Quentin Reboul, Florent Fuchs, Sandrine Wavrant, Jean-Claude Fouron, François Audibert
OBJECTIVES: To determine the prognostic value of fetal Doppler and echocardiographic parameters for neonatal survival up to 30 days after laser coagulation in monochorionic pregnancies complicated by twin-twin transfusion syndrome (TTTS). METHODS: Fetal echocardiography and outcome data of consecutive cases of TTTS treated by laser were retrospectively reviewed. Hemodynamic and cardiac function parameters were collected before and after laser. RESULTS: Between February 2006 and January 2015, 106 fetoscopic laser were performed...
November 3, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27799851/low-molecular-weight-heparin-can-benefit-women-with-recurrent-pregnancy-loss-and-sole-protein-s-deficiency-a-historical-control-cohort-study-from-taiwan
#10
Ming-Ching Shen, Wan-Ju Wu, Po-Jen Cheng, Gwo-Chin Ma, Wen-Chu Li, Jui-Der Liou, Cheng-Shyong Chang, Wen-Hsiang Lin, Ming Chen
BACKGROUND: Heritable thrombophilias are assumed important etiologies for recurrent pregnancy loss. Unlike in the Caucasian populations, protein S and protein C deficiencies, instead of Factor V Lieden and Prothrombin mutations, are relatively common in the Han Chinese population. In this study we aimed to investigate the therapeutic effect of low molecular weight heparin upon women with recurrent pregnancy loss and documented protein S deficiency. METHODS: During 2011-2016, 68 women with recurrent pregnancy loss (RPL) and protein S deficiency (both the free antigen and function of protein S were reduced) were initially enrolled...
2016: Thrombosis Journal
https://www.readbyqxmd.com/read/27785898/outcome-of-intracytoplasmic-sperm-injection-using-fresh-and-cryopreserved-thawed-test%C3%A4-cular-spermatozoa-in-83-azoospermic-men-with-klinefelter-syndrome
#11
Kubilay Vicdan, Cem Akarsu, Eran Sözen, Burcu Buluç, Arzu Vicdan, Yıldırım Yılmaz, Kutay Biberoğlu
AIM: To report the outcome of intracytoplasmic sperm injection (ICSI) cycles using fresh or cryopreserved-thawed testicular spermatozoa of men with Klinefelter syndrome (KS). METHODS: Medical records of 83 azoospermic men with KS who underwent testicular sperm extraction (TESE) were reviewed. The clinical parameters for predicting sperm retrieval and fertilization, implantation, pregnancy and live birth rates of ICSI cycles in these patients were evaluated. RESULTS: A total of 88 TESE procedures were performed with sperm retrieval rates of 39...
November 2016: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/27776345/quantitative-proteomics-reveals-piccolo-as-a-candidate-serological-correlate-of-recovery-from-guillain-barr%C3%A3-syndrome
#12
Lourdes Mateos-Hernández, Margarita Villar, Ernesto Doncel-Pérez, Marco Trevisan-Herraz, Ángel García-Forcada, Francisco Romero Ganuza, Jesús Vázquez, José de la Fuente
Guillain-Barré syndrome (GBS) is an autoimmune-mediated peripheral neuropathy of unknown cause. However, about a quarter of GBS patients have suffered a recent bacterial or viral infection, and axonal forms of the disease are especially common in these patients. Proteomics is a good methodological approach for the discovery of disease biomarkers. Until recently, most proteomics studies of GBS and other neurodegenerative diseases have focused on the analysis of the cerebrospinal fluid (CSF). However, serum represents an attractive alternative to CSF because it is easier to sample and has potential for biomarker discovery...
October 20, 2016: Oncotarget
https://www.readbyqxmd.com/read/27766995/the-outcome-of-monochorionic-diamniotic-twins-discordant-at-11-to-13-6-weeks-gestation
#13
Yaniv Zipori, Karen Reidy, T Gilchrist, Lex W Doyle, Mark P Umstad
BACKGROUND: Monochorionic diamniotic (MCDA) twin pregnancies are associated with adverse perinatal outcome. Intertwin discordances at the time of nuchal translucency (NT) screening may have a value in the prediction of fetal loss or twin-to-twin transfusion syndrome. We aimed to determine the ability of intertwin NT and crown rump length (CRL) discordances among MCDA twins to predict adverse outcomes. MATERIAL AND METHODS: All MCDA twins with a documented routine ultrasound at 11 to 13+6 weeks' gestation, and known pregnancy outcome between August 2003 and August 2012 were included...
December 2016: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/27764900/evaluation-of-long-term-neurodevelopment-in-twin-twin-transfusion-syndrome-after-laser-therapy
#14
Nicolas Sananès, Victor Gabriele, Anne Sophie Weingertner, Rodrigo Ruano, Magdalena Sanz-Cortes, Adrien Gaudineau, Bruno Langer, Israël Nisand, Chérif Youssef Akladios, Romain Favre
OBJECTIVE: The primary objective of our study was to evaluate the long-term neurodevelopment outcome after laser surgery for twin-twin transfusion syndrome (TTTS). The secondary objective was to identify perinatal prognostic factors associated with neurodevelopmental impairment. METHOD: This was a single-center cohort prospective study carried out in pregnancies complicated by TTTS and treated by laser. Neurodevleopmental assesment included the administration of Ages and Stages Questionnaires® (ASQ), for the infants between 2 and 5 years of age...
October 20, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27760663/-the-prognosis-of-monochorionic-co-twin-after-single-intrauterine-fetal-demise
#15
Y Wang, Y Wei, P B Yuan, X J Wang, Y Y Zhao
Objective: To analyze the prognosis of surviving monochorionic co-twin after single intrauterine fetal demise (sIUFD). Methods: Retrospectively analyzed the twin pregnancy cases admitted in Peking University Third Hospital between Jan 2008 and Feb 2015. We recorded perinatal characteristics, neuroimage in co-twin, and followed up the neonatal outcome. Results: 47 cases were found, including 45 cases of monochorionic diamniotic (MCDA) and 2 cases of monochorionic monoamniotic (MCMA). Median gestational age at sIUFD was 27 weeks...
October 11, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/27759174/estimated-combined-cardiac-output-and-laser-therapy-for-twin-twin-transfusion-syndrome
#16
Shiraz A Maskatia, Rodrigo Ruano, Alireza A Shamshirsaz, Pouya Javadian, Joshua A Kailin, Michael A Belfort, Carolyn A Altman, Nancy A Ayres
INTRODUCTION: Twin-twin transfusion syndrome (TTTS) is the major cause for fetal demise in monochorionic diamniotic pregnancies. Estimated combined cardiac output (CCO) has not been studied in this setting. The primary aims of this study were to compare CCO in twin donor and recipient fetuses and assess differences in CCO before and after laser coagulation therapy. A secondary aim was to evaluate the relationship of CCO with perinatal mortality, defined as intrauterine or neonatal mortality (≤30 days of age) in fetuses that underwent laser coagulation therapy...
October 2016: Echocardiography
https://www.readbyqxmd.com/read/27754288/br-07-3-the-effect-of-host-genetics-on-microbiota-and-metabolic-syndromes
#17
GwangPyo Ko
Recently, there were dramatically increased interests on human microbiome research worldwide. Human microbiome has been considered as the second genome in addition to our own genome and played very crucial roles in maintaining human health. Human microbiota typically reside on the surface of epithelial cells and play various biological roles ranging from metabolism, immune development, mental health, and to organ development. Since 2008, we have determined the diversity of Korean microbiome and determined the genes and pathways of gut microbiome using Korean Twin Cohort...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27753589/chorioamniotic-membrane-separation-found-on-routine-testing-in-an-otherwise-asymptomatic-woman-with-late-preterm-twin-gestation
#18
Sarah M Holmen, Tiki Bakhshi, Maria M Molina, Larissa F Weir
BACKGROUND: Chorioamniotic membrane separation (CMS) is a rare finding that is commonly preceded by invasive fetal procedures. The presence of CMS can also be associated with uncommon maternal or fetal conditions as well as preterm delivery, amniotic band syndrome, umbilical cord complications, and fetal and neonatal death. It is classified as a high-risk antepartum condition due to the significant fetal morbidity and mortality that may ensue. CASE REPORT: A 40-year-old gravida 5 para 1212 at 35 weeks presented for antepartum fetal testing...
October 2016: Military Medicine
https://www.readbyqxmd.com/read/27751419/outcome-of-twin-twin-transfusion-syndrome-treated-by-laser-therapy-in-taiwan-s-single-center-role-of-quintero-staging-system
#19
Yao-Lung Chang, An-Shine Chao, Shuenn-Dyh Chang, Peter Cc Hsieh, Sheng-Yuan Su, Kuan-Ju Chen, Po-Jen Cheng, Tzu-Hao Wang
OBJECTIVE: To evaluate the outcome of twin-twin transfusion syndrome (TTTS) treated by fetoscopic laser therapy (FLT) stratified by Quintero staging. MATERIALS AND METHODS: A total of 100 TTTS cases treated by FLT, from October 2005 to August 2014, were included in this study. Cases were divided into first and second half periods to evaluate the learning effect-related outcomes, and logistic regression was applied to determine the independent factors in predicting the perinatal outcomes...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27741202/observed-rate-of-down-syndrome-in-twin-pregnancies
#20
Teresa N Sparks, Mary E Norton, Monica Flessel, Sara Goldman, Robert J Currier
OBJECTIVE: 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. METHODS: 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...
November 2016: Obstetrics and Gynecology
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