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https://www.readbyqxmd.com/read/28742216/the-fetuses-at-risk-approach-survival-analysis-from-a-fetal-perspective
#1
K S Joseph, Michael S Kramer
Several phenomena in contemporary perinatology create challenges for analyzing pregnancy outcomes. These include recent increases in iatrogenic delivery at late preterm and early term gestation which are incongruent with the belief that stillbirth and neonatal death risk decrease exponentially with advancing gestational age. Perinatal epidemiologists have also puzzled over the paradox of intersecting birth weight- and gestational age-specific perinatal mortality curves for decades. For example, neonatal mortality rates among preterm infants of women who smoke are substantially lower than neonatal mortality rates among preterm infants of non-smoking women, whereas the reverse pattern occurs at term gestation...
July 25, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28736902/pseudoamniotic-band-syndrome-after-fetoscopic-laser-ablation-of-placental-anastomoses-for-twin-twin-transfusion-syndrome-two-case-reports-and-systematic-review
#2
Anne Sophie Lafitte, Eric Verspyck, Corinne Jeanne Pasquier, Patricia Dolley, Michel Dreyfus, Guillaume Benoist
Pseudoamniotic band syndrome is a rare complication that occurs after invasive procedures for complicated monochorionic twins. We report 2 cases of intrauterine recipient fetal death after laser therapy for twin-twin transfusion syndrome due to umbilical cord constriction by the amniotic band.
July 24, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28730607/concurrent-chondrodysplasia-punctata-type-2-conradi-hunermann-happle-syndrome-and-ichthyosis-vulgaris-in-teenaged-twin-girls
#3
Haneol S Jeong, Tara Funari, Katherine Gordon, Gabriele Richard, Nnenna G Agim
We present concurrent X-linked chondrodysplasia punctata and ichthyosis vulgaris in adolescent fraternal twin girls, notable for initial presentation with dry skin in adolescence, characterized by dark-brown scale typical of ichthyosis vulgaris and blaschkolinear, atrophic, scaly plaques. This constellation of findings prompted further genetic investigation. Using a multigene approach to examine 39 genes associated with congenital ichthyosis, next-generation sequencing revealed a novel heterozygous missense mutation at a mutational hotspot in the EBP gene c...
July 21, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28730318/renal-function-in-neonates-with-twin-twin-transfusion-syndrome-treated-with-or-without-fetoscopic-laser-surgery
#4
Lianne Verbeek, Faiez A Joemmanbaks, Jacoba M E Quak, Ram N Sukhai, Johanna M Middeldorp, Dick Oepkes, Enrico Lopriore
The aim of this study is to investigate the short-term renal function in neonates with twin-twin transfusion syndrome (TTTS), treated with fetoscopic laser surgery (laser group) or conservatively (non-laser group). Creatinine and urea levels and urine output were recorded in the first week after birth. Primary outcome was short-term renal dysfunction, defined as a creatinine level of >100 μmol/L during the first week postpartum. We evaluated 312 twins (laser group, n = 274; non-laser group, n = 38)...
July 20, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28727977/the-vanishing-twin-syndrome-two-cases-of-extreme-malformations-associated-with-vanished-twins
#5
Julia K Shinnick, Nasim Khoshnam, Sydney R Archer, Philip C Quigley, Haynes Robinson, Sarah Keene, Matthew T Santore, Sarah Hill, Binita Patel, Bahig M Shehata
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...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28724477/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
#6
Nancy L Segal
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...
August 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28713498/identical-twins-with-pierre-robin-syndrome-unusual-encounter
#7
Nabil Shdaifat, Zaid Al-Zoubi, Hazem Khraisat, Rana Al-Omor, Khaled Matar
New born babies could suffer from multiple craniofacial abnormalities, such as Pierre Robin syndrome, which consists of micrognathia and relative macroglossia with or without cleft palate. Although Pierre Robin syndrome is well described in literature, only a few have mentioned its occurrence in identical twins. This paper presents a rare incident of full-term twin babies born with the sequence of Pierre Robin syndrome, which consists of micrognathia, cleft palate, and glossoptosis. Although it is a rare coincidence, Pierre Robin syndrome still can occur in identical twin babies...
May 2017: Electronic Physician
https://www.readbyqxmd.com/read/28709445/twin-twin-transfusion-syndrome-study-protocol-for-developing-disseminating-and-implementing-a-core-outcome-set
#8
Asma Khalil, Helen Perry, James Duffy, Keith Reed, Ahmet Baschat, Jan Deprest, Kurt Hecher, Liesbeth Lewi, Enrico Lopriore, Dick Oepkes
BACKGROUND: Twin-Twin Transfusion Syndrome (TTTS) is associated with an increased risk of perinatal mortality and morbidity. Several treatment interventions have been described for TTTS, including fetoscopic laser surgery, amnioreduction, septostomy, expectant management, and pregnancy termination. Over the last decade, fetoscopic laser surgery has become the primary treatment. The literature to date reports on many different outcomes, making it difficult to compare results or combine data from individual studies, limiting the value of research to guide clinical practice...
July 14, 2017: Trials
https://www.readbyqxmd.com/read/28695721/aortic-isthmus-shunt-dynamics-in-normal-and-complicated-monochorionic-pregnancies
#9
Viola Seravalli, Dana Block-Abraham, Cyrethia McShane, Sarah Millard, Ahmet Baschat, Jena Miller
OBJECTIVE: To study fetal aortic isthmus (AoI) shunt dynamics in monochorionic (MC) twins. METHODS: Normal and complicated MC pregnancies were prospectively enrolled. The relationship of isthmus flow index (IFI) with Doppler parameters of umbilical artery (UA), descending aorta (DAo), middle cerebral artery (MCA), and ductus venosus (DV), and with left and right ventricular cardiac output and stroke volume was studied. RESULTS: The IFI was obtained in 180 examinations from 48 pregnancies (24 twin-twin-transfusion syndrome, TTTS; 4 selective intrauterine growth restriction, sIUGR; 12 TTTS+sIUGR; 8 uncomplicated)...
July 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28692430/adherence-to-safe-sleep-recommendations-by-families-with-higher-order-multiples
#10
Madeline C Haas, Donna Dowling, Elizabeth G Damato
BACKGROUND: More than 95% of higher-order multiples are born preterm and more than 90% are low birth weight, making this group of infants especially vulnerable to sudden infant death syndrome (SIDS). Emerging evidence suggests that families with twins face challenges adhering to the American Academy of Pediatrics (AAP) recommendations to reduce SIDS risks. Adherence to the AAP recommendations in families with higher-order multiples has not been described. PURPOSE: This study describes SIDS risk reduction infant care practices for higher-order multiples during the first year of life...
July 13, 2017: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
https://www.readbyqxmd.com/read/28680967/a-continuum-robot-and-control-interface-for-surgical-assist-in-fetoscopic-interventions
#11
George Dwyer, Francois Chadebecq, Marcel Tella Amo, Christos Bergeles, Efthymios Maneas, Vijay Pawar, Emanuel Vander Poorten, Jan Deprest, Sebastien Ourselin, Paolo De Coppi, Tom Vercauteren, Danail Stoyanov
Twin-twin transfusion syndrome requires interventional treatment using a fetoscopically introduced laser to sever the shared blood supply between the fetuses. This is a delicate procedure relying on small instrumentation with limited articulation to guide the laser tip and a narrow field of view to visualize all relevant vascular connections. In this letter, we report on a mechatronic design for a comanipulated instrument that combines concentric tube actuation to a larger manipulator constrained by a remote centre of motion...
March 8, 2017: IEEE Robotics and Automation Letters
https://www.readbyqxmd.com/read/28673238/report-of-an-unsual-case-of-anophthalmia-and-craniofacial-cleft-in-a-newborn-with-toxoplasma-gondii-congenital-infection
#12
Gabriel Emmanuel Arce-Estrada, Valeria Gómez-Toscano, Carlos Cedillo-Peláez, Ana Luisa Sesman-Bernal, Vanessa Bosch-Canto, José Luis Mayorga-Butrón, José Antonio Vargas-Villavicencio, Dolores Correa
BACKGROUND: We present one unusual case of anophthalmia and craniofacial cleft, probably due to congenital toxoplasmosis only. CASE PRESENTATION: A two-month-old male had a twin in utero who disappeared between the 7(th) and the 14(th) week of gestation. At birth, the baby presented anophthalmia and craniofacial cleft, and no sign compatible with genetic or exposition/deficiency problems, like the Wolf-Hirschhorn syndrome or maternal vitamin A deficiency. Congenital toxoplasmosis was confirmed by the presence of IgM abs and IgG neo-antibodies in western blot, as well as by real time PCR in blood...
July 3, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28662632/timing-of-delivery-in-a-high-risk-obstetric-population-a-clinical-prediction-model
#13
Dane A De Silva, Sarka Lisonkova, Peter von Dadelszen, Anne R Synnes, Laura A Magee
BACKGROUND: The efficacy of antenatal corticosteroid treatment for women with threatened preterm birth depends on timely administration within 7 days before delivery. We modelled the probability of delivery within 7 days of admission to hospital among women presenting with threatened preterm birth, using routinely collected clinical characteristics. METHODS: Data from the Canadian Perinatal Network (CPN) were used, 2005-11, including women admitted to hospital with preterm labour, preterm pre-labour rupture of membranes, short cervix without contractions, or dilated cervix or prolapsed membranes without contractions at preterm gestation...
June 29, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28658408/discordant-clinical-outcomes-of-congenital-zika-virus-infection-in-twin-pregnancies
#14
Vanessa van der Linden, Hélio van der Linden, Mariana de Carvalho Leal, Epitacio Leite Rolim, Ana van der Linden, Maria de Fátima Viana Vasco Aragão, Alessandra Mertens Brainer-Lima, Danielle Di Cavalcanti Sousa Cruz, Liana O Ventura, Telma Lúcia Tabosa Florêncio, Marli Tenório Cordeiro, Silvio da Silva Caudas, Regina Coeli Ramos
Congenital Zika syndrome is an emergent cause of a congenital infectious disorder, resulting in severe damage to the central nervous system and microcephaly. Despite advances in understanding the pathophysiology of the disease, we still do not know all the mechanisms enrolled in the vertical transmission of the virus. As has already been reported in other types of congenital infectious disorders in dizygotic twin pregnancies, it is possible that the virus affects only one of the fetuses. In this article, we report on two cases of twin pregnancies exposed to the Zika virus, but with only one of the fetuses affected with microcephaly and brain damage...
June 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28637222/risk-factors-for-the-development-of-delayed-tsh-elevation-in-neonatal-intensive-care-unit-nicu-newborns
#15
Amnon Zung, Rachel Bier Palmon, Agneta Golan, Mara Troitzky, Smadar Eventov-Friedman, Ronella Marom, Rimona Keidar, Neri Kats, Shlomo Almashanu, Orna Flidel-Rimon
Context: Delayed TSH elevation (dTSH) is defined as elevated TSH in the second neonatal screen (following normal TSH in the initial screen) in premature, low-birth-weight and sick newborns, mostly in the neonatal intensive care unit (NICU) setting. The pathogenesis of dTSH is elusive. Objective: To identify risk factors for dTSH development among newborns in the NICU. Design: setting and patients: A retrospective chart review of neonates with dTSH was conducted in eight university-affiliated NICUs...
June 20, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28631899/dual-molecular-diagnosis-contributes-to-atypical-prader-willi-phenotype-in-monozygotic-twins
#16
Fernanda S Jehee, Valdirene T de Oliveira, Juliana Gurgel-Giannetti, Rafaella X Pietra, Fernando V M Rubatino, Natália V Carobin, Gabrielle S Vianna, Mariana L de Freitas, Karla S Fernandes, Beatriz S V Ribeiro, Hennie T Brüggenwirth, Roza Ali-Amin, Janson J White, Zeynep C Akdemir, Shalini N Jhangiani, Richard A Gibbs, James R Lupski, Monica C Varela, Célia Koiffmann, Carla Rosenberg, Cláudia M B Carvalho
We describe monozygotic twin girls with genetic variation at two separate loci resulting in a blended phenotype of Prader-Willi syndrome and Pitt-Hopkins syndrome. These girls were diagnosed in early infancy with Prader-Willi syndrome, but developed an atypical phenotype, with apparent intellectual deficiency and lack of obesity. Array-comparative genomic hybridization confirmed a de novo paternal deletion of the 15q11.2q13 region and exome sequencing identified a second mutational event in both girls, which was a novel variant c...
June 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28608572/identification-of-candidate-genes-involved-in-the-etiology-of-sporadic-tourette-syndrome-by-exome-sequencing
#17
Yosuke Eriguchi, Hitoshi Kuwabara, Aya Inai, Yuki Kawakubo, Fumichika Nishimura, Chihiro Kakiuchi, Mamoru Tochigi, Jun Ohashi, Naoto Aoki, Kayoko Kato, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Koichiro Doi, Jun Yoshimura, Shinichi Morishita, Takafumi Shimada, Masaomi Furukawa, Tadashi Umekage, Tsukasa Sasaki, Kiyoto Kasai, Yukiko Kano
Tourette Syndrome (TS) is a neurodevelopmental disorder characterized by chronic motor and vocal tics. Although there is a large genetic contribution, the genetic architecture of TS remains unclear. Exome sequencing has successfully revealed the contribution of de novo mutations in sporadic cases with neuropsychiatric disorders such as autism and schizophrenia. Here, using exome sequencing, we investigated de novo mutations in individuals with sporadic TS to identify novel risk loci and elucidate the genetic background of TS...
June 13, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28602111/genetics-of-polycystic-ovary-syndrome
#18
Kateryna Mykhalchenko, Daria Lizneva, Tatiana Trofimova, Walidah Walker, Larisa Suturina, Michael P Diamond, Ricardo Azziz
Polycystic ovary syndrome (PCOS) is a hormonal and metabolic disorder affecting 5 to 20% of reproductive-aged women worldwide that results in androgen excess, menstrual dysfunction and oligo-ovulatory subfertility, with increased risks for type 2 diabetes, endometrial adenocarcinoma, and potentially vascular disease, among other morbidities. PCOS is a complex genetic trait with strong heritability accounting for as high as 70% of the development of the disorder. Areas covered: The authors summarize the historical and recent findings of genetic studies of PCOS, such as familial studies, twin studies, and molecular genetic studies, including the results of recent genome wide associated studies...
July 2017: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/28598116/-optimal-ovulation-induction-in-polycystic-ovary-syndrome-resistant-to-clomiphene-citrate-or-letrozole
#19
Ying Chen, Dan Zhang
OBJECTIVES: To investigate the optimal ovulation induction with the combination of combining letrozole(LE),clomiphene citrate (CC),and human menopausal gonadotropin (HMG) in polycystic ovary syndrome(PCOS) patients resistant to CC or LE. METHODS: Two hundreds nine PCOS patients (209 cycles) resistant to CC or LE were randomly divided into three groups: CC+HMG group (59 cycles),LE+HMG group (72 cycles) and LE+CC group (78 cycles).The patients in LE+CC group unable to form the dominant follicle after 54 cycles were enrolled into LE+CC+HMG group...
November 2016: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28593773/-hellp-syndrome-requiring-therapeutic-plasma-exchange-due-to-progression-to-multiple-organ-dysfunction-syndrome-with-predominant-encephalopathy-respiratory-and-renal-insufficiency
#20
M Trávniková, J Gumulec, Z Kořístek, M Navrátil, M Janáč, J Pelková, P Šuráň, E Doležálková, O Šimetka
OBJECTIVE: Case report of woman with twin pregnancy complicated by HELLP syndrome which progressed to multiple organ dysfunction syndrome with predominant encephalopathy, renal and respiratory insufficiency with the need to perform repeated therapeutic plasma exchange. DESIGN: Case report. SETTING: Department of gynecology and obstetrics, University Hospital in Ostrava; Departmet of hematooncology, University Hospital in Ostrava; Department of gynecology and obstetrics, Vsetín hospital; Department of hematology and transfusion, Vsetín Hospital...
2017: Ceská Gynekologie
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