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https://www.readbyqxmd.com/read/28521627/disseminated-bacillus-calmette-gu%C3%A3-rin-osteomyelitis-in-twin-sisters-related-to-stat1-gene-deficiency
#1
Sabah Boudjemaa, Linda Dainese, Sébastien Héritier, Caroline Masserot, Samia Hachemane, Jean-Laurent Casanova, Aurore Coulomb, Jacinta Bustamante
Mendelian susceptibility to mycobacterial disease is a rare syndrome characterized by severe clinical infections usually caused by weakly virulent mycobacterial species such as Bacillus Calmette-Guérin vaccines and environmental nontuberculous mycobacteria or more virulent mycobacteria as mycobacterium tuberculosis. Since 1996, 9 genes including 7 autosomal ( STAT1, IFNGR1, IFNGR2, IL12B, IL12RB1, ISG15, and IRF8) and 2 X-linked genes ( NEMO and CYBB) have been identified. Allelic heterogeneity leaded to recognize about 18 genetic diseases with variable clinical phenotypes, but sharing a same physiological mechanism represented by a defect in human IL-12-dependant-INF-γ-mediated immunity...
June 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28508528/competing-risks-model-in-screening-for-preeclampsia-in-twin-pregnancies-by-maternal-characteristics-and-medical-history
#2
Carla Francisco, David Wright, Zsófia Benkő, Argyro Syngelaki, Kypros H Nicolaides
OBJECTIVE: A survival-time regression model for the gestational age at delivery with preeclampsia (PE) in singleton pregnancies using maternal demographic characteristics and medical history was previously reported. The objective of this paper is to extend this model for dichorionic (DC) and monochorionic (MC) twin pregnancies. METHODS: The study population included 1,789 DC and 430 MC twin pregnancies and 93,297 singleton pregnancies. A survival-time model for the gestational age at delivery with PE was developed from variables of maternal characteristics and history...
May 15, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28491880/iron-refractory-iron-deficiency-anemia-in-dizygotic-twins-due-to-a-novel-tmprss6-gene-mutation-in-addition-to-polymorphisms-associated-with-high-susceptibility-to-develop-ferropenic-anemia
#3
Joana Pinto, Gustavo Nobre de Jesus, Mónica Palma Anselmo, Lúcia Gonçalves, Daniela Brás, João Madeira Lopes, João Meneses, Rui Victorino, Paula Faustino
Iron refractory iron deficiency anemia (IRIDA) is an autosomal recessive ferropenic anemia. Its hypochromic microcytic pattern is associated with low transferrin saturation, normal-high ferritin, and inappropriately high hepcidin level. This entity is caused by mutants of the TMPRSS6 gene that encodes the protein matriptase II, which influences hepcidin expression, an iron metabolism counterregulatory protein. We report two 29-year-old dizygotic female twins with ferropenic, hypochromic microcytic anemia with 20 years of evolution, refractory to oral iron therapy...
April 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28487021/increased-risk-of-placental-abruption-after-solomon-laser-treatment-of-twin-twin-transfusion-syndrome
#4
M M Lanna, S Faiola, D Consonni, M A Rustico
To evaluate the relative risk of placental abruption in monochorionic (MC) twin pregnancies complicated with twin-to-twin transfusion syndrome (TTTS) and treated with endoscopic laser coagulation of placental vessels (ELCPV). A retrospective analysis from January 2004 and December 2015 of 373 TTTS pregnancies, treated with selective ELCPV until January 2012 (287 cases), after which the Solomon technique was introduced (86 cases), compared with 243 normal MC pregnancies. A significant improvement in perinatal survival was observed after the introduction of the Solomon technique when compared to the selective procedure (77% vs 54%, p < 0...
May 2017: Placenta
https://www.readbyqxmd.com/read/28479073/-macroscopic-description-of-placental-vascular-anastomoses-after-dye-injection-for-the-comprehension-of-monochorionic-pregnancy-complications
#5
A Atallah, P-A Bolze, A Buenerd, S Marino, J Massardier, P Gaucherand, M Massoud
OBJECTIVES: The aim of the study is to compare placental monochorionic angioarchitecture complicated with twin-oligohydramnios-polyhydramnios sequence (TOPS), twin anemia polycythemia sequence (TAPS), twin reversed arterial perfusion (TRAP) and selective intra uterine growth restriction (sIUGR) to normal uneventful monochorionic placenta. METHODS: Between December 2012 and December 2015, monochorionic placenta has been studied at the multiple pregnancy care center of the Femme-Mère-Enfant Hospital in Lyon...
May 3, 2017: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/28478841/somatic-mutation-a-cause-of-biliary-atresia-a-hypothesis
#6
Alexandre Fabre, Céline Roman, Bertrand Roquelaure
Despite many years of research, the causes of biliary atresia still remain elusive. Infection, immune disorder, toxins or maternal microchimerism have been cited as potential triggers of biliary atresia. This is a rare disease with a stable incidence over the years although with sizeable ethnic variations. This stability suggests that environmental factors have in fact only a slight influence. During the search for etiologies, twin studies have often helped disentangle the genetic from the environmental. For this condition, twin studies have mainly demonstrated a lack of concordance between twins (either monozygotic or dizygotic), ruling out Mendelian, infectious or toxic causes...
May 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/28477345/fetoscopic-laser-coagulation-in-1020-pregnancies-with-twin-to-twin-transfusion-syndrome-demonstrates-improvement-of-double-survival-rates
#7
W Diehl, A Diemert, D Grasso, S Sehner, K Wegscheider, K Hecher
OBJECTIVE: To investigate the growing experience and learning curve of fetoscopic laser coagulation of the placental vascular anastomoses in severe mid trimester twin-to-twin transfusion syndrome (TTTS) and its influence on perinatal outcome in a single center setting. METHODS: Between 01/1995 and 03/2013 we performed laser therapy in 1020 consecutive pregnancies with TTTS between 15.1 and 27.4 weeks of gestation. We compared perinatal outcome in blocks of five sequential groups...
May 6, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28460542/hematological-disorders-at-birth-in-complicated-monochorionic-twins
#8
Lianne Verbeek, Femke Slaghekke, Marieke Sueters, Johanna M Middeldorp, Frans J Klumper, Monique C Haak, Dick Oepkes, Enrico Lopriore
Monochorionic twins are at risk of severe complications including twin-twin transfusion syndrome (TTTS), twin anemia-polycythemia sequence (TAPS) and acute peripartum TTTS. The pathophysiology is based on inter-twin blood transfusion through placental vascular anastomoses. Areas covered: This review focuses on the incidence, management and outcome of neonatal hematological complications at birth in TTTS, TAPS and acute peripartum TTTS. Expert commentary: Hematological disorders are often present at birth in monochorionic twins and include acute or chronic anemia, polycythemia and thrombocytopenia...
May 10, 2017: Expert Review of Hematology
https://www.readbyqxmd.com/read/28457852/identification-of-a-novel-de-novo-nonsense-mutation-of-the-nsd1-gene-in-monozygotic-twins-discordant-for-sotos-syndrome
#9
Ji Yoon Han, In Goo Lee, Woori Jang, Soyoung Shin, Joonhong Park, Myungshin Kim
INTRODUCTION: Sotos syndrome is a congenital overgrowth disorder characterized by facial gestalt, excessively rapid growth, acromegalic features and a non-progressive cerebral disorder with intellectual disability. METHODOLOGY: The identical male twins showed somewhat different clinical, cognitive and behavioural phenotypes. Abnormal clinical manifestations including seizures, scoliosis, enlarged ventricles, and attention-deficit/hyperactivity disorder (ADHD) were found in the proband (first twin), but not in the sibling (second twin)...
April 27, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28455084/recipient-umbilical-artery-elongation-redundancy-in-twin-twin-transfusion-syndrome
#10
Roopali Donepudi, Lovepreet K Mann, Christoph Wohlmuth, Anthony Johnson, Michael W Bebbington, Kenneth J Moise, David S Boudreaux, Helena Gardiner, Ramesha Papanna
BACKGROUND: Chronic hypertension in adults causes arterial lengthening in major arteries, but the effects of early fetal hypertension on the twin-twin transfusion syndrome (TTTS) recipient's vascular architecture remains unknown. OBJECTIVES: We hypothesize that arterial cord redundancy is related to recipient hypertension and subsequent heart failure. Our objectives were: 1) to establish a 3D color Doppler ultrasound method of measuring umbilical arterial (UA) length relative to its corresponding venous segment in the Umbilical cord using AV-angle, 2) to compare recipient AV-angle to gestational age-matched controls, and 3) to test the association of AV-angle with recipient heart failure...
April 25, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28454700/what-is-the-impact-of-placental-tissue-damage-after-laser-surgery-for-twin-twin-transfusion-syndrome-a-secondary-analysis-of-the-solomon-trial
#11
Joost Akkermans, Saskia M de Vries, Depeng Zhao, Suzanne H P Peeters, Frans J Klumper, Johanna M Middeldorp, Dick Oepkes, Femke Slaghekke, Enrico Lopriore
BACKGROUND: The introduction of the Solomon technique for the treatment of twin-twin transfusion syndrome (TTTS) increased placental exposure to laser energy. This study aims to identify the impact of power and energy used in laser treatment on placental tissue and pregnancy outcome. METHODS: Pictures of all dye-injected placentas since the start of the Solomon trial were analyzed. Placental damage was scored using a grading system including visual scar depth and affected proportion of the vascular equator...
April 2017: Placenta
https://www.readbyqxmd.com/read/28444780/fetal-brain-injury-in-complicated-monochorionic-pregnancies-diagnostic-yield-of-prenatal-mri-following-surveillance-ultrasound-and-influence-on-prognostic-counselling
#12
Alice Robinson, Mark Teoh, Andrew Edwards, Michael Fahey, Stacy Goergen
OBJECTIVE: To determine the additional diagnostic information provided by prenatal (fetal) magnetic resonance imaging (pMRI) following tertiary ultrasound (US) for fetal cranial abnormalities in complicated monochorionic gestations (cMCGs) METHODS: Women with cMCGs complicated by twin - twin transfusion syndrome (TTTS), co-twin demise (CD), selective intrauterine growth restriction (sIUGR), and / or twin anemia - polycythemia sequence (TAPS) who were referred for pMRI after tertiary US were included...
April 26, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28436347/familiality-and-heritability-of-fatigue-in-an-australian-twin-sample
#13
Elizabeth C Corfield, Nicholas G Martin, Dale R Nyholt
Familial factors have previously been implicated in the etiology of fatigue, of which a significant proportion is likely attributable to genetic influences. However, family studies have primarily focused on chronic fatigue syndrome, while univariate twin studies have investigated broader fatigue phenotypes. The results for similar fatigue phenotypes vary between studies, particularly with regard to sex-specific contributions to the heritability of the traits. Therefore, the current study aims to investigate the familiality and sex-specific effects of fatigue experienced over the past few weeks in an older Australian population of 660 monozygotic (MZ) twin pairs, 190 MZ singleton twins, 593 dizygotic (DZ) twin pairs, and 365 DZ singleton twins...
April 24, 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28434005/chorioamniotic-membrane-separation-after-fetoscopic-laser-photocoagulation
#14
Mayumi Takano, Masahiko Nakata, Susumu Murata, Masahiro Sumie, Mineto Morita
INTRODUCTION: This study aimed to investigate the risk factors, incidence, and influence on the perinatal outcome of chorioamniotic membrane separation (CMS) after fetoscopic laser photocoagulation (FLP). MATERIAL AND METHODS: This retrospective study included 312 women who underwent FLP for twin-to-twin transfusion syndrome (TTTS). Clinical records were used to review obstetrical examinations, complications, operative data, ultrasonographic findings, and perinatal and neonatal follow-up data in all patients...
April 22, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28422345/therapeutic-efficacy-of-twin-block-and-fixed-oral-appliances-in-patients-with-obstructive-sleep-apnea-syndrome
#15
George Umemoto, Hideo Toyoshima, Yuji Yamaguchi, Naoko Aoyagi, Chikara Yoshimura, Kouta Funakoshi
PURPOSE: To compare the efficacy of twin-block (i.e., allows mouth opening) and fixed (i.e., maintains mouth closure) mandibular advancement splints (MASs) for the treatment of obstructive sleep apnea-hypopnea syndrome (OSA). MATERIALS AND METHODS: From 2011 to 2013, 23 patients with OSA in the twin-block group, and from 2013 to 2015, 29 patients in the fixed MAS group were included. All patients underwent polysomnography before and after 3 months of treatment. The two sets of polysomnographic and cephalometric variables were compared...
April 19, 2017: Journal of Prosthodontics: Official Journal of the American College of Prosthodontists
https://www.readbyqxmd.com/read/28407410/variable-clinical-course-of-identical-twin-neonates-with-alstr%C3%A3-m-syndrome-presenting-coincidentally-with-dilated-cardiomyopathy
#16
Seth A Hollander, Norah Alsaleh, Maura Ruzhnikov, Kristen Jensen, David N Rosenthal, David A Stevenson, Melanie Manning
Alström Syndrome (AS) is a rare autosomal recessive disorder caused by mutations in the ALMS1 gene. We report monozygotic twin infants who presented concurrently with symptoms of congestive heart failure (CHF) due to dilated cardiomyopathy (DCM). Following their initial presentation, one twin improved both echocardiographically and functionally while the other twin showed a progressive decline in ventricular function and worsening CHF symptoms requiring multiple hospitalizations and augmentation of heart failure therapy...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28405987/cardiorenal-syndrome-clinical-outcome-study
#17
H R Shah, N P Singh, N P Aggarwal, D Singhania, A Kumar
BACKGROUND: Over recent years, the field of medicine has been challenged by the twin epidemic of heart failure and renal insufficiency. The coexistence of the two problems in the same patient, referred to as cardiorenal syndrome (CRS), is defined as 'disorders of the heart and kidneys whereby acute or chronic dysfunction in one organ may induce acute or chronic dysfunction of the other. The mechanisms underlying this interaction are complex and multifactorial in nature. OBJECTIVE OF STUDY: Identify and classify patients admitted with cardiorenal syndrome into various subtypes and assess clinical outcome at discharge and at three months...
December 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28403975/-fetoscopic-laser-coagulation-in-200%C3%A2-consecutive-monochorionic-pregnancies-with-twin-twin-transfusion-syndrome
#18
L Lecointre, N Sananès, A S Weingertner, A Gaudineau, C Akladios, V Cavillon, B Langer, R Favre
OBJECTIVES: To report preoperative data, surgical characteristics, complications and perinatal outcome of twin-twin transfusion syndrome (TTTS) managed with laser ablation surgery, to analyze predictors of neonatal survival and to compare the 100 most recent cases with the older 100. MATERIALS AND METHODS: Observational cohort moncentric study of 200 cases of TTTS consecutively treated with fetoscopic laser coagulation between January 2004 and December 2014...
February 2017: J Gynecol Obstet Hum Reprod
https://www.readbyqxmd.com/read/28397216/-prenatal-diagnosis-of-22q11-microdeletion-syndrome
#19
Meiying Cai, Hailong Huang, Na Lin, Nan Guo, Xiaoqing Wu, Linjuan Su, Liangpu Xu
OBJECTIVE: To establish a method for the prenatal diagnosis of 22q11 microdeletion syndrome. METHODS: BACs-on-Beads (BoBs) and fluorescence in situ hybridization (FISH) were performed on a fetus for whom amniotic chromosomal culturing has failed and a pair of twin fetuses suspected for 22q11 deletion syndrome. RESULTS: 22q11 microdeletion was detected in all 3 fetuses by prenatal BoBs as well as FISH, with only one red signal detected at the DiGeorge/VCFS N25 site and two green signals on the 22q13...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28384775/superior-canal-dehiscence-syndrome-affecting-3-families
#20
Katherine D Heidenreich, Paul R Kileny, Sameer Ahmed, Hussam K El-Kashlan, Tori L Melendez, Gregory J Basura, Marci M Lesperance
Importance: Superior canal dehiscence syndrome (SCDS) is an increasingly recognized cause of hearing loss and vestibular symptoms, but the etiology of this condition remains unknown. Objective: To describe 7 cases of SCDS across 3 families. Design, Setting, and Participants: This retrospective case series included 7 patients from 3 different families treated at a neurotology clinic at a tertiary academic medical center from 2010 to 2014. Patients were referred by other otolaryngologists or were self-referred...
April 6, 2017: JAMA Otolaryngology—Head & Neck Surgery
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