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https://www.readbyqxmd.com/read/29332067/incidence-of-and-risk-factors-for-residual-anastomoses-in-twin-twin-transfusion-syndrome-treated-with-laser-surgery-a-15-year-single-center-experience
#1
P J C Knijnenburg, F Slaghekke, L S A Tollenaar, J M van Klink, D P Zhao, J M Middeldorp, M C Haak, F J Klumper, D Oepkes, E Lopriore
OBJECTIVES: To evaluate the incidence of residual anastomoses (RA) after laser therapy for twin-twin transfusion syndrome (TTS) and investigate risk factors for incomplete laser surgery. MATERIAL AND METHODS: All available TTS placentas treated with laser at our center between 2002 and 2016 were injected with color dye to assess the presence of RA. We evaluated the incidence of RA over the past 15 years by dividing the cohort into three time periods, and studied the association with risk factors and neonatal outcome...
January 12, 2018: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/29320800/risks-of-preterm-premature-rupture-of-membranes-and-preterm-birth-post-fetoscopy-based-on-location-of-trocar-insertion-site
#2
Ramen H Chmait, Andrew H Chon, Lisa M Korst, Arlyn Llanes, Eftichia V Kontopoulos, Ruben A Quintero
OBJECTIVE:  The objective of this study was to assess whether the location of the trocar insertion site for laser treatment of twin-twin transfusion syndrome was associated with preterm-premature rupture of membranes (PPROM) and preterm birth (PTB). STUDY DESIGN:  In this study trocar location was documented in the operating room. Lower uterine segment (LUS) location was defined as any insertion <10 cm vertically from the pubic symphysis. Lateral location was defined as ≥5 cm horizontally from the midline...
January 10, 2018: American Journal of Perinatology
https://www.readbyqxmd.com/read/29316027/somatic-mutations-activating-wiskott-aldrich-syndrome-protein-concomitant-with-ras-pathway-mutations-in-juvenile-myelomonocytic-leukemia-patients
#3
A Coppe, L Nogara, M S Pizzuto, A Cani, S Cesaro, R Masetti, F Locatelli, G Te Kronnie, G Basso, S Bortoluzzi, S Bresolin
The WAS gene product is expressed exclusively in the cytoplasm of hematopoietic cells and constitutional genetic abrogation of WASP leads to Wiskott-Aldrich syndrome (WAS). Moreover, mutational activation of WASP has been associated with X-linked neutropenia (XLN). Although studies reported that patients with constitutional WAS mutations affecting functional WASP expression may present Juvenile MyeloMonocytic Lukemia (JMML)-like features, confounding differential diagnosis above all in the co-presence of mutated RAS, an activating somatic mutation of WASP has not been previously described in JMML patients...
January 7, 2018: Human Mutation
https://www.readbyqxmd.com/read/29316011/roles-of-venovenous-anastomosis-and-umbilical-cord-insertion-abnormalities-in-birthweight-discordance-in-monochorionic-diamniotic-twin-pregnancies-without-twin-twin-transfusion-syndrome
#4
Hiroko Konno, Takeshi Murakoshi, Akiko Yamashita, Mitsuru Matsushita
AIM: We evaluated risk factors for birthweight discordance in monochorionic diamniotic (MCDA) twin pregnancies without twin-twin transfusion syndrome (TTTS). METHODS: We investigated all MCDA twin placentas injected with colored dye at our institution between 2007 and 2015. We excluded pairs of twins with TTTS, fetal demise, or severe fetal malformation. All pairs of twins were assigned to the discordant group (birthweight discordance ≥ 25%) or the concordant group (birthweight discordance < 25%)...
January 5, 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29314091/the-relationship-between-preoperative-fetal-head-circumference-and-2-year-cognitive-performance-after-laser-surgery-for-twin-twin-transfusion-syndrome
#5
Andrew H Chon, Mary Rose Mamey, Sheree M Schrager, Douglas L Vanderbilt, Ramen H Chmait
OBJECTIVE: To determine the relationship between preoperative fetal head circumference (HC) and cognitive performance among children treated with laser surgery for twin-twin transfusion syndrome (TTTS). METHODS: Donor and recipient twin HCs were measured preoperatively (16 - 26 weeks' gestation) and at 2 years corrected age. Multilevel multivariate regression models were used to test pregnancy and child-level risk factors for lower Battelle Developmental Inventory 2nd Edition (BDI-2) scores...
January 4, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29311748/integrated-analysis-of-gene-expression-differences-in-twins-discordant-for-disease-and-binary-phenotypes
#6
Sivateja Tangirala, Chirag J Patel
While both genes and environment contribute to phenotype, deciphering environmental contributions to phenotype is a challenge. Furthermore, elucidating how different phenotypes may share similar environmental etiologies also is challenging. One way to identify environmental influences is through a discordant monozygotic (MZ) twin study design. Here, we assessed differential gene expression in MZ discordant twin pairs (affected vs. non-affected) for seven phenotypes, including chronic fatigue syndrome, obesity, ulcerative colitis, major depressive disorder, intermittent allergic rhinitis, physical activity, and intelligence quotient, comparing the spectrum of genes differentially expressed across seven phenotypes individually...
January 8, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29303129/higher-order-multiple-births-in-nigeria-experiences-challenges-and-neonatal-outcomes-in-a-private-health-facility
#7
B Ezenwa, O Oseni, P Akintan, P Aligwekwe, B Chukwukelu, O Fashola, A Ogunmokun, O Odukoya
OBJECTIVES: The aim of this study is to describe the experience and outcome of higher order multiple (HOM) births in a private tertiary health facility in Nigeria. MATERIALS AND METHODS: This was a retrospective review of records of HOM over 3 years in a private tertiary health facility in Nigeria. Relevant data on HOM births were extracted from both the patients' case notes, admission registers and maternity ward and delivery records of the hospital using a predesigned pro forma...
November 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/29301441/use-of-the-fetal-myocardial-performance-index-in-monochorionic-diamniotic-twin-pregnancy-a-prospective-cohort-and-nested-case-control-study
#8
Amanda Henry, Saranya Gopikrishna, Aditi Mahajan, Jennifer Alphonse, Neama Meriki, Alec W Welsh
AIMS: Assess clinical utility of the fetal Myocardial Performance Index (MPI) in evaluation and management of monochorionic, diamniotic twin (MCDA) pregnancies. METHODS: Prospective cohort of a) initially uncomplicated MCDA b) Complicated MCDA, including twin-twin transfusion syndrome (TTTS), selective intrauterine growth restriction (sIUGR), and liquor and/or growth discordance (L/GD) not meeting TTTS or sIUGR criteria. TTTS and sIUGR were case-control matched...
January 4, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29287298/polyhydramnios-affecting-a-recipient-like-twin-risk-of-progression-to-twin-twin-transfusion-syndrome-and-outcomes
#9
Erin E Washburn, Teresa N Sparks, Kristen A Gosnell, Larry Rand, Juan M Gonzalez, Vickie A Feldstein
OBJECTIVE:  The significance of polyhydramnios of one twin in the absence of oligohydramnios of the cotwin in monochorionic diamniotic (MCDA) twin pregnancies (polyhydramnios affecting a recipient-like twin [PART]) is unknown. Our aim is to assess the risk of progression to twin-twin transfusion syndrome (TTTS) with PART, progression to ≥ stage II TTTS, and neonatal survival. STUDY DESIGN:  This study was a retrospective cohort study of MCDA twin pregnancies with PART evaluated at a referral center from 2008 to 2015...
December 29, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/29250101/perspective-is-random-monoallelic-expression-a-contributor-to-phenotypic-variability-of-autosomal-dominant-disorders
#10
Baoheng Gui, Jesse Slone, Taosheng Huang
Several factors have been proposed as contributors to interfamilial and intrafamilial phenotypic variability in autosomal dominant disorders, including allelic variation, modifier genes, environmental factors and complex genetic and environmental interactions. However, regardless of the similarity of genetic background and environmental factors, asymmetric limb or trunk anomalies in a single individual and variable manifestation between monozygotic twins have been observed, indicating other mechanisms possibly involved in expressivity of autosomal dominant diseases...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/29249624/genetic-short-stature
#11
Michelle Grunauer, Alexander A L Jorge
Adult height and growth patterns are largely genetically programmed. Studies in twins have indicated that the heritability of height is high (>80%), suggesting that genetic variation is the main determinant of stature. Height exhibits a normal (Gaussian) distribution according to sex, age, and ancestry. Short stature is usually defined as a height which is 2 standard deviations (S.D.) less than the mean height of a specific population. This definition includes 2.3% of the population and usually includes healthy individuals...
December 6, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29241912/radiofrequency-ablation-for-selective-reduction-in-complex-monochorionic-multiple-pregnancies-a-case-series
#12
Hong-Mei Wang, Hong-Yan Li, Xie-Tong Wang, Yan-Yun Wang, Lei Li, Bo Liang, Jing Wang, Jia Song
OBJECTIVE: To determine the safety and efficacy of radiofrequency ablation (RFA) for selective fetal reduction in complex monochorionic multiple pregnancies. MATERIALS AND METHODS: From July 2011 to January 2015, data on all cases treated with RFA were collected prospectively in our hospital. Indications, procedure details, cause of fetal demise and pregnancy outcomes were analyzed. Sonography and magnetic resonance imaging were performed to detect fetal brain damage...
December 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29207382/incidental-septostomy-after-laser-surgery-for-twin-twin-transfusion-syndrome-perinatal-outcomes-and-antenatal-management
#13
Brian J Gordon, Andrew H Chon, Lisa M Korst, Arlyn Llanes, David A Miller, Ramen H Chmait
INTRODUCTION: Incidental septostomy, or inadvertent perforation of the twins' dividing membranes, can create a functional monoamniotic twin pregnancy. Our aim was to describe the perinatal outcomes and antenatal management of patients with incidental septostomy after laser surgery for twin-twin transfusion syndrome (TTTS). MATERIALS AND METHODS: Monochorionic diamniotic multiple gestations with a gestational age (GA) between 16 and 26 weeks that underwent laser surgery from March 2006 to December 2015 were studied retrospectively...
December 5, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/29206494/prenatal-diagnosis-of-twin-fetuses-with-a-novel-ar-gene-mutation-in-a-chinese-family-of-complete-androgen-insensitivity-syndrome
#14
Weiqing Wu, Qian Geng, Yang Liu, Zhiyong Xu, Peining Li, Jiansheng Xie
INTRODUCTION AND AIMS: Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic disorder caused by mutations in the androgen receptor (AR) gene. Only a few cases of AIS with AR gene mutations have been diagnosed prenatally. This study aimed to investigate the gene mutation in a Chinese complete androgen insensitivity syndrome family and perform prenatal diagnosis for twin fetuses. CASE REPORT: We evaluated the AR gene of the child proband in a Chinese CAIS family, and detected a novel mutation c...
December 5, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29172821/risk-of-donor-demise-after-laser-therapy-for-twin-twin-transfusion-when-complicated-by-growth-discordance-and-abnormal-umbilical-artery-doppler-findings
#15
Matthew M Finneran, Megan A Templin, Courtney D Stephenson
OBJECTIVE: To investigate the natural course of abnormal umbilical artery Doppler (UAD) findings in donor fetuses after laser surgery and the prognostic significance of resolution, persistence, or new onset UAD abnormalities with and without the presence of preoperative growth discordance. STUDY DESIGN: Retrospective cohort study of all monochorionic-diamniotic multi-fetal gestations diagnosed with twin-twin transfusion syndrome (TTTS) undergoing laser surgery at a single large metropolitan referral center from 2010-2016...
November 27, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29155475/weight-discordance-and-perinatal-mortality-in-twin-pregnancies-a-systematic-review-and-meta-analysis
#16
REVIEW
Francesco D'Antonio, Anthony O Odibo, Federico Prefumo, Asma Khalil, Danilo Buca, Maria Elena Flacco, Marco Liberati, Lamberto Manzoli, Ganesh Acharya
OBJECTIVES: The primary aim of this systematic review was to explore the strength of association between birthweight (BW) discordance and perinatal mortality in twin pregnancies; the secondary aim was to ascertain the contribution of gestational age and growth restriction in determining mortality in growth discordant twins. METHODS: Medline, Embase, Cinahl and Clinicaltrials.gov databases were searched. Only studies reporting the risk of mortality in twin pregnancies affected compared to those not affected by weight discordance were included...
November 20, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29153672/an-intermediate-sflt-1-plgf-ratio-indicates-an-increased-risk-for-adverse-pregnancy-outcome
#17
Janine Hoffmann, Victoria Ossada, Marie Weber, Holger Stepan
OBJECTIVE: The sFlt-1/PlGF ratio is a valid marker in diagnosing or excluding preeclampsia. The currently used cut offs frame an intermediate zone of 33-85 (<340 weeks) or 33-110 (≥340 weeks), respectively. In this study we sought to evaluate the relevance of an intermediate sFlt-1/PlGF ratio for the clinical pregnancy course and outcome. MATERIAL AND METHODS: We retrospectively analysed 533 consecutive patients with sFlt-1/PlGF ratio measurements for suspected preeclampsia...
October 2017: Pregnancy Hypertension
https://www.readbyqxmd.com/read/29138598/familial-aggregation-of-myasthenia-gravis-in-affected-families-a-population-based-study
#18
Fu-Chao Liu, Chang-Fu Kuo, Lai-Chu See, Hsin-I Tsai, Huang-Ping Yu
Introduction: Myasthenia gravis (MG) is clinically heterogeneous and can be life-threatening if bulbar or respiratory muscles are involved. However, relative contributions of genetic, shared, and nonshared environmental factors to MG susceptibility remain unclear. The aim of this study was to examine the familial aggregation and heritability of MG and the relative risks (RRs) of other autoimmune diseases in the relatives of patients with MG. Methods: A population-based family study using the Taiwan National Health Insurance (NHI) Database was conducted...
2017: Clinical Epidemiology
https://www.readbyqxmd.com/read/29136349/clinical-delineation-of-a-subtype-of-frontonasal-dysplasia-with-creased-nasal-ridge-and-upper-limb-anomalies-report-of-six-unrelated-patients
#19
Daphné Lehalle, Umut Altunoglu, Ange-Line Bruel, Eric Arnaud, Patricia Blanchet, Jong-Woo Choi, Julie Désir, Esra Kiliç, Damien Lederer, Lucile Pinson, Christel Thauvin-Robinet, Amihood Singer, Julien Thevenon, Patrick Callier, Hulya Kayserili, Laurence Faivre
Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29130604/expanding-the-phenotypic-spectrum-of-tp63-related-disorders-including-the-first-set-of-monozygotic-twins
#20
Tara Wenger, Dong Li, Margaret H Harr, Wen-Hann Tan, Renata Pellegrino, Zornitza Stark, Hakon Hakonarson, Elizabeth J Bhoj
Individuals with Tumor Protein P63 (TP63)-related disorders are known to present with a range of phenotypic features, including ectrodactyly, ectodermal dysplasia, cleft lip/palate, Rapp-Hodgkin, Hay-Wells, and limb-mammary syndromes. We present six individuals from three families, including a set of monozygotic twins, with pathogenic TP63 variants who had novel clinical findings. The twins were discordant for cleft lip and palate, and the type of hand malformations, but concordant for choanal atresia, and bilateral volar nail...
November 12, 2017: American Journal of Medical Genetics. Part A
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