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twin to twin syndrom

Loïc Peter, Marcel Tella-Amo, Dzhoshkun Ismail Shakir, George Attilakos, Ruwan Wimalasundera, Jan Deprest, Sébastien Ourselin, Tom Vercauteren
PURPOSE: The standard clinical treatment of Twin-to-Twin transfusion syndrome consists in the photo-coagulation of undesired anastomoses located on the placenta which are responsible to a blood transfer between the two twins. While being the standard of care procedure, fetoscopy suffers from a limited field-of-view of the placenta resulting in missed anastomoses. To facilitate the task of the clinician, building a global map of the placenta providing a larger overview of the vascular network is highly desired...
March 15, 2018: International Journal of Computer Assisted Radiology and Surgery
Zoë W Hawks, Natasha Marrus, Anne L Glowinski, John N Constantino
Previous research has suggested that behavioral comorbidity is the rule rather than the exception in autism. The present study aimed to trace the respective origins of autistic and general psychopathologic traits-and their association-to infancy. Measurements of autistic traits and early liability for general psychopathology were assessed in 314 twins at 18 months, ascertained from the general population using birth records. 222 twins were re-evaluated at 36 months. Standardized ratings of variation in social communication at 18 months were highly heritable and strongly predicted autistic trait scores at 36 months...
March 16, 2018: Journal of Abnormal Child Psychology
Martina Belli, Shunichi Shimasaki
Growth and differentiation factor 9 (GDF9) and bone morphogenetic protein 15 (BMP15) are oocyte-secreted factors with a leading role in the control of ovarian function in female reproduction, modulating both the cell fate of the somatic granulosa cells and the quality and developmental competence of the egg. This short review aims to consolidate the molecular aspects of GDF9 and BMP15 and their integral actions in female fertility to understand particularly their effects on oocyte quality and fetal growth. The significant consequences of mutations in the GDF9 and BMP15 genes in women with dizygotic twins as well as the clinical relevance of these oocyte factors in the pathogenesis of primary ovarian insufficiency and polycystic ovary syndrome are also addressed...
2018: Vitamins and Hormones
Tamas Jilling, Namasivayam Ambalavanan, C Michael Cotten, Colin A Martin, Akhil Maheshwari, Kurt Schibler, Joshua Levy, Grier P Page
BACKGROUND: Twin studies suggest that genetic factors may account for up to 50% increased risk for necrotizing enterocolitis (NEC), but genome-wide association studies (GWAS) for NEC are lacking. METHODS: Genotyping was done on Illumina BeadChip, followed by analysis using PLINK with logistic regression under an additive model. RESULTS: Among 751 extremely low birth weight (<1000 g, >401 g) neonates, 30 had surgical NEC. 261 single nucleotide polymorphisms (SNPs) showed association with NEC at P<0...
March 14, 2018: Pediatric Research
Klaus Bsl Batista, Badri Thiruvenkatachari, Jayne E Harrison, Kevin D O'Brien
BACKGROUND: Prominent upper front teeth are a common problem affecting about a quarter of 12-year-old children in the UK. The condition develops when permanent teeth erupt. These teeth are more likely to be injured and their appearance can cause significant distress. Children are often referred to an orthodontist for treatment with dental braces to reduce the prominence of their teeth. If a child is referred at a young age, the orthodontist is faced with the dilemma of whether to treat the patient early or to wait and provide treatment in adolescence...
March 13, 2018: Cochrane Database of Systematic Reviews
Mert Ozan Bahtiyar, Emre Ekmekci, Emine Demirel, Roxanna A Irani, Joshua A Copel
Monochorionic twin pregnancies are at risk of unique complications due to placental sharing and vascular connections between placental territories assigned for each twin. Twin anemia-polycythemia sequence (TAPS) is an infrequent but potentially dangerous complication of abnormal placental vascular connections. TAPS occurs due to very-small-caliber (< 1 mm) abnormal placental vascular connections which lead to chronic anemia in the donor twin and polycythemia in the recipient twin. TAPS may occur spontaneously or following fetoscopic laser photocoagulation of communicating placental vessels for twin-twin transfusion syndrome...
March 13, 2018: Fetal Diagnosis and Therapy
Sara Filoche, Beverley Lawton, Angela Beard, Anthony Dowell, Peter Stone
Non-invasive prenatal testing (NIPT) is a new screen for fetal chromosomal abnormalities. It is a screening test based on technology that involves the analysis of feto-placental DNA that is present in maternal blood. This DNA is then analysed for abnormalities of specific chromosomes (eg 13, 18, 21, X, Y). NIPT has a much higher screening capability for chromosomal abnormalities than current combined first trimester screening, with ~99% sensitivity for trisomy 21 (Down syndrome) and at least a 10-fold higher positive predictive value...
December 2017: Journal of Primary Health Care
Erin E Washburn, Teresa N Sparks, Kristen A Gosnell, Larry Rand, Juan M Gonzalez, Vickie A Feldstein
OBJECTIVE:  This article describes the natural history of stage I twin-twin transfusion syndrome (TTTS) including risk of progression to higher stage TTTS and pregnancy outcomes, and to identify risk factors for progression. STUDY DESIGN:  Retrospective cohort study of monochorionic diamniotic (MCDA) twin pregnancies from 2006 to 2016 with expectantly managed Quintero stage I TTTS. RESULTS:  A total of 30 MCDA twin pregnancies with expectantly managed stage I TTTS were identified...
February 8, 2018: American Journal of Perinatology
C Berthin, P Sibilia, J Martins-Hericher, A Donzeau, L Martin
BACKGROUND: Non-classical congenital adrenal hyperplasia (NC-CAH) is a recessive autosomal disease caused by a deficiency of adrenal steroidogenesis enzymes. It must be distinguished from classical CAH, either simple virilising or salt-wasting, diagnosed during the neonatal period and responsible for potentially lethal disorders of sexual differentiation. NC-CAH presents a simpler and less specific clinical picture. Herein, we present two cases comprising twin girls consulting for diffuse hypertrichosis...
March 7, 2018: Annales de Dermatologie et de Vénéréologie
Jaimin S Shah, Susan Hosseini Nasab, Neil Chappell, Han-Yang Chen, Amy Schutt, Hector Mendez-Figueroa
PURPOSE: To investigate whether twin pregnancies conceived by different forms of fertility treatments are associated with adverse neonatal outcomes and to examine the difference in maternal and obstetrical characteristics between patients. METHODS: Our study was a retrospective analysis of twin pregnancies conceived by fertility treatments from a prospectively collected database. Treatments were stratified into two groups: group 1 (ART) consisted of in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI), and group 2 (non-ART) included intrauterine insemination (IUI) and ovulation induction (OI)...
March 9, 2018: Journal of Assisted Reproduction and Genetics
Luiz Felipe Lessa Ortiz, Julio Elito Júnior, Edward Araujo Júnior, Alberto Borges Peixoto, Nelson Sass, Antonio Fernandes Moron
We report the case of a 20-year-old patient, primigravida, with twin monochorionic pregnancy, with a weight gain of 6 kg in one week and increased blood pressure. During the ultrasound diagnostic investigation, placental edema and hydrops were identified in both fetuses, which, in association with maternal anasarca and pressure control, constitute the triad for mirror syndrome, also known as triple edema. In addition to being hydropic, one of the twins was an acardiac fetus, which is a rare combination of events...
2018: Case Reports in Obstetrics and Gynecology
Pedro-Antonio Regidor, Adolf Eduard Schindler, Bernd Lesoine, Rene Druckman
Introduction The use of 2 × 2000 mg myo-inositol +2 × 200 μg folic acid per day is a safe and promising tool in the effective improvement of symptoms and infertility for patients with polycystic ovary syndrome (PCOS). In addition, PCOS is one of the pathological factors involved in the failure of in vitro fertilization (IVF). Typically, PCOS patients suffer of poor quality oocytes. Patients and methods In an open, prospective, non-blinded, non-comparative observational study, 3602 infertile women used myo-inositol and folic acid between 2 and 3 months in a dosage of 2 × 2000 mg myo-inositol +2 × 200 μg folic acid per day...
March 2, 2018: Hormone Molecular Biology and Clinical Investigation
Vesna Musani, Petar Ozretić, Diana Trnski, Maja Sabol, Sanja Poduje, Mateja Tošić, Mirna Šitum, Sonja Levanat
We describe a case of twins with sporadic Gorlin syndrome. Both twins had common Gorlin syndrome features including calcification of the falx cerebri, multiple jaw keratocysts, and multiple basal cell carcinomas, but with different expressivity. One brother also had benign testicular mesothelioma. We propose this tumor type as a possible new feature of Gorlin syndrome. Gorlin syndrome is a rare autosomal dominant disorder characterized by both developmental abnormalities and cancer predisposition, with variable expression of various developmental abnormalities and different types of tumors...
February 28, 2018: Croatian Medical Journal
Francesca Brunini, Barbara Zaina, Davide Gianfreda, Wally Ossola, Marisa Giani, Luigi Fedele, Piergiorgio Messa, Gabriella Moroni
PURPOSE: To assess pregnancy outcome in women with Alport syndrome and the impact of pregnancy on the disease progression. METHODS: We describe one of the largest series of pregnancies in Alport syndrome. Seven pregnancies of six women were monitored by a multidisciplinary team of nephrologists and gynecologists. After delivery, patients were followed for at least 3 years. We compare our results with those in the literature. RESULTS: Pregnancy course was uneventful in the patient with isolated microscopic hematuria...
February 28, 2018: Archives of Gynecology and Obstetrics
Marcel Tella-Amo, Loic Peter, Dzhoshkun I Shakir, Jan Deprest, Danail Stoyanov, Juan Eugenio Iglesias, Tom Vercauteren, Sebastien Ourselin
The most effective treatment for twin-to-twin transfusion syndrome is laser photocoagulation of the shared vascular anastomoses in the placenta. Vascular connections are extremely challenging to locate due to their caliber and the reduced field-of-view of the fetoscope. Therefore, mosaicking techniques are beneficial to expand the scene, facilitate navigation, and allow vessel photocoagulation decision-making. Local vision-based mosaicking algorithms inherently drift over time due to the use of pairwise transformations...
April 2018: Journal of Medical Imaging
Shahrbanoo Nakhaei, Hamed Heidary, Aliasghar Rahimian, Mahdi Vafadar, Farzaneh Rohani, Gholam Reza Bahoosh, Davoud Amirkashani
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive metabolic disorder caused by mutations in gene encoding the domain-5 of α/β-hydrolase enzyme (ABHD5). It is known as a natural lipid storage disorder arising from impaired lipid metabolism often characterized by hepatomegaly, myopathy, ataxia, non-bullous ichthyosiform erythroderma, hearing loss, and mental retardation. In the present study, we report two affected 28-month-old monozygotic twin boys as a new case of CDS. Genetic analysis was performed in patients, and the results showed a homozygote deletion in exon 4 of ABHD5...
February 24, 2018: Iranian Biomedical Journal
Rosemary Townsend, Asma Khalil
In the decades since the introduction of ultrasound into routine obstetric practice, the advantages of ultrasound have moved beyond the simple ability to identify multiple pregnancies antenatally to the possibility of screening them for fetal anomalies, pre-eclampsia, preterm birth, and the complications specific to monochorionic pregnancies. Screening studies have often excluded twins because physiological differences impact on the validity and sensitivity of the screening tests in routine use in singletons, and therefore, the evidence of screening performance in multiple pregnancy lags behind the evidence from singleton pregnancies...
February 18, 2018: Seminars in Fetal & Neonatal Medicine
David Chesler, Richard Bram, Prince Antwi, Andrew T Timberlake, Michael L DiLuna, Kristopher T Kahle
INTRODUCTION: Craniosynostosis is the premature fusion of one or more cranial sutures. The cause of non-syndromic craniosynostosis has been attributed to a complex interaction among genetic, epigenetic, and environmental factors. Increased concordance rates in monozygotic twins support a genetic etiology while a concordance rate less than 100% suggests environmental and/or epigenetic influences. Here, we describe the first reported occurrence of all three children in a triplet set with non-syndromic single-suture craniosynostosis...
February 19, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Mohamed Sayed Abdelhafez, Mahmoud Mohamed Abdelrazik, Ahmed Badawy
OBJECTIVE: To compare the obstetric outcomes of triplet gestations managed by early fetal reduction to twins with those managed by prophylactic cervical cerclage in women conceived with assisted reproductive techniques (ART). MATERIALS AND METHODS: Retrospective study of the pregnancy and neonatal outcomes of trichorionic triplet gestations achieved by ART and managed either by early transvaginal fetal reduction to twins (n = 53) or by prophylactic placement of cervical cerclage (n = 65)...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
Jet van der Kemp, Yvonne T van der Schouw, Folkert W Asselbergs, N Charlotte Onland-Moret
Heart failure is a complex disease, which is presented differently by men and women. Several studies have shown that reproductive factors, such as age at natural menopause, parity and polycystic ovarian syndrome (PCOS), may play a role in the development of heart failure. Shared genetics may provide clues to underlying mechanisms; however, this has never been examined. Therefore, the aim of the current study was to explore whether any reproductive factor is potentially related to heart failure in women, based on genetic similarities...
March 2018: Maturitas
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