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https://www.readbyqxmd.com/read/29138598/familial-aggregation-of-myasthenia-gravis-in-affected-families-a-population-based-study
#1
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
#2
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
#3
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
https://www.readbyqxmd.com/read/29122542/twin-twin-transfusion-syndrome-what-we-have-learned-from-clinical-trials
#4
REVIEW
Fatiha Djaafri, Julien Stirnemann, Imen Mediouni, Claire Colmant, Yves Ville
Monochorionic twin pregnancies are at increased risk for adverse outcome compared to dichorionic twin pregnancies and singletons. Monochorionic-specific complications include twin-twin transfusion syndrome (TTTS), twin anemia-polycythemia sequence, single intrauterine fetal demise and its consequences on the co-twin, and selective intrauterine growth restriction. Whereas the natural history of monochorionic-specific complications carries a high risk of fetal death or severe neurologic disability, a framework now exists, based on well-designed clinical trials, for optimal treatment of these entities...
November 6, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29119001/a-swedish-national-adoption-study-of-risk-of-irritable-bowel-syndrome-ibs
#5
Rasmus Waehrens, Bengt Zöller, Jan Sundquist, Kristina Sundquist, MirNabi Pirouzifard
Objectives: Irritable bowel syndrome (IBS) clusters in families, but the familial risk of IBS has not been determined in adoptees. Studying adoptees and their biological and adoptive parents is a strong study design for separating genetic from environmental causes of familial clustering. This nationwide study aimed to separate the biological (genetic) and familial environmental contribution to the familial transmission of IBS. Methods: We performed a family study for Swedish-born adoptees born from 1951 until 1995, and their biological and adoptive parents...
2017: BMJ Open Gastroenterology
https://www.readbyqxmd.com/read/29109840/identical-twins-with-crouzon-syndrome-eight-year-follow-up-genetic-considerations-and-operative-management
#6
Mark S Lloyd, Jeffrey G Trost, David Y Khechoyan, Larry H Hollier, Edward P Buchanan
A case report of monozygotic (MZ) twins with Crouzon syndrome was previously published to highlight variables in clinical presentation. The postnatal and epigenetic causes for this variation are not well understood. An 8-year follow-up discusses their pertinent clinic course with consideration of genetic and nongenetic variables. The phenotypic and symptomatic obstacles encountered since their initial assessment are reviewed, and the use of three-dimensional Medical Modeling (Golden, CO) as a preoperative planning strategy is addressed...
December 2017: Craniomaxillofacial Trauma & Reconstruction
https://www.readbyqxmd.com/read/29103877/ethical-considerations-in-the-care-of-complicated-twin-pregnancies
#7
Naomi T Laventhal, Marjorie C Treadwell
Twin gestations are increasing in prevalence worldwide, and are potentially subject to medical complications which present uniquely complex ethical and psychosocial challenges for the pregnant patient and obstetrician to navigate. In this article, we explore these issues as they relate to medical decision-making in cases of discordant growth and discordant anomalies in both monochorionic and dichorionic twin pregnancies, including those affected by twin-twin transfusion syndrome, with particular attention to scenarios in which the individual fetuses hold competing interests...
November 2, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29103407/musical-interests-and-talent-twin-jazz-musicians-and-twin-studies-twin-research-loss-of-a-preterm-multiple-conjoined-twin-conception-depression-in-fathers-of-twins-twin-to-twin-transfusion-syndrome-twin-news-high-achieving-twins-twin-children-of-a-tennis-star
#8
Nancy L Segal
Findings from twin studies of musical interests and talent are reviewed as a backdrop to the lives and careers of twin jazz musicians, Peter and Will Anderson. The Anderson twins exemplify many aspects of twin research, namely their matched musical abilities, shared musical interests, and common career. This overview is followed by reviews of studies and case reports of bereavement in families who have lost a preterm multiple birth infant, the conception of conjoined twins following in vitro fertilization (IVF), depression in fathers of twins, and twin-to-twin transfusion incidence in monochorionic-diamniotic IVF twin pairs...
November 6, 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/29102398/side-effects-of-intraoral-devices-for-osas-treatment
#9
Andressa Otranto de Britto Teixeira, Ana Luiza Ladeia Andrade, Rhita Cristina da Cunha Almeida, Marco Antonio de Oliveira Almeida
INTRODUCTION: Intraoral devices have increasingly assumed a key role in the treatment of Obstructive Sleep Apnea Syndrome, but there are limitations to their indication and side effects that result from their continuous use, as well as the use of the Continuous Positive Airway Pressure device. OBJECTIVES: To evaluate the changes in dental positioning caused by the continuous use of mandibular advancement devices. METHODS: A prospective longitudinal study with a sample of 15 patients, with evaluation of complete documentation after a mean time of 6...
October 14, 2017: Brazilian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/29101986/acr-appropriateness-criteria-%C3%A2-multiple-gestations
#10
Phyllis Glanc, David A Nyberg, Nadia J Khati, Sandeep Prakash Deshmukh, Kika M Dudiak, Tara Lynn Henrichsen, Liina Poder, Thomas D Shipp, Lynn Simpson, Therese M Weber, Carolyn M Zelop
Women with twin or higher-order pregnancies will typically have more ultrasound examinations than women with a singleton pregnancy. Most women will have at minimum a first trimester scan, a nuchal translucency evaluation scan, fetal anatomy scan at 18 to 22 weeks, and one or more scans in the third trimester to evaluate growth. Multiple gestations are at higher risk for preterm delivery, congenital anomalies, fetal growth restriction, placenta previa, vasa previa, and velamentous cord insertion. Chorionicity and amnionicity should be determined as early as possible when a twin pregnancy is identified to permit triage of the monochorionic group into a closer surveillance model...
November 2017: Journal of the American College of Radiology: JACR
https://www.readbyqxmd.com/read/29089484/systematic-proteome-and-proteostasis-profiling-in-human-trisomy-21-fibroblast-cells
#11
Yansheng Liu, Christelle Borel, Li Li, Torsten Müller, Evan G Williams, Pierre-Luc Germain, Marija Buljan, Tatjana Sajic, Paul J Boersema, Wenguang Shao, Marco Faini, Giuseppe Testa, Andreas Beyer, Stylianos E Antonarakis, Ruedi Aebersold
Down syndrome (DS) is mostly caused by a trisomy of the entire Chromosome 21 (Trisomy 21, T21). Here, we use SWATH mass spectrometry to quantify protein abundance and protein turnover in fibroblasts from a monozygotic twin pair discordant for T21, and to profile protein expression in 11 unrelated DS individuals and matched controls. The integration of the steady-state and turnover proteomic data indicates that protein-specific degradation of members of stoichiometric complexes is a major determinant of T21 gene dosage outcome, both within and between individuals...
October 31, 2017: Nature Communications
https://www.readbyqxmd.com/read/29071724/risk-factors-for-fetomaternal-bleeding-after-laser-therapy-for-twin-twin-transfusion-syndrome
#12
Andrew H Chon, Lisa M Korst, Brendan H Grubbs, Eftichia V Kontopoulos, Rubén A Quintero, Ramen H Chmait
OBJECTIVE: To quantify and assess potential risk factors for transplacental passage of fetal red blood cells (RBCs) into the maternal circulation (feto-maternal bleed, FMB) after laser surgery for twin-twin transfusion syndrome (TTTS). STUDY DESIGN: A retrospective study of Rhesus (Rh)-D negative patients that underwent laser surgery for TTTS. Patients with and without post-operative detectable fetal RBCs on Kleihauer-Betke (KB) testing were compared to determine risk factors for FMB...
October 26, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29057986/hippurate-as-a-metabolomic-marker-of-gut-microbiome-diversity-modulation-by-diet-and-relationship-to-metabolic-syndrome
#13
Tess Pallister, Matthew A Jackson, Tiphaine C Martin, Jonas Zierer, Amy Jennings, Robert P Mohney, Alexander MacGregor, Claire J Steves, Aedin Cassidy, Tim D Spector, Cristina Menni
Reduced gut microbiome diversity is associated with multiple disorders including metabolic syndrome (MetS) features, though metabolomic markers have not been investigated. Our objective was to identify blood metabolite markers of gut microbiome diversity, and explore their relationship with dietary intake and MetS. We examined associations between Shannon diversity and 292 metabolites profiled by the untargeted metabolomics provider Metabolon Inc. in 1529 females from TwinsUK using linear regressions adjusting for confounders and multiple testing (Bonferroni: P < 1...
October 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29055131/case-report-of-staphylococcus-epidermidis-maternal-sepsis-and-chorioamnionitis-following-fetoscopy
#14
Gabriel Levin, Roy Zigron
A patient aged 28 years (gravida 5 para 3) who was at 21 weeks of a monochorionic diamniotic pregnancy, underwent fetoscopic laser ablation of placental blood vessels owing to stage-3 twin-to-twin transfusion syndrome (Figure 1). Ultrasonography on post-operative day 1 demonstrated marked improvement of both embryo urinary bladder filling and Doppler blood flow measurements. This article is protected by copyright. All rights reserved.
October 21, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29053637/progress-in-genetic-studies-of-tourette-s-syndrome
#15
REVIEW
Yanjie Qi, Yi Zheng, Zhanjiang Li, Lan Xiong
Tourette's Syndrome (TS) is a complex disorder characterized by repetitive, sudden, and involuntary movements or vocalizations, called tics. Tics usually appear in childhood, and their severity varies over time. In addition to frequent tics, people with TS are at risk for associated problems including attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, depression, and problems with sleep. TS occurs in most populations and ethnic groups worldwide, and it is more common in males than in females...
October 20, 2017: Brain Sciences
https://www.readbyqxmd.com/read/29040903/aplasia-cutis-congenita-as-a-result-of-interstitial-laser-therapy-for-fetal-reduction-in-monochorionic-twins-conservative-approach-and-outcome
#16
Veronica Mugarab-Samedi, Abhay Lodha, Adel ElSharkawy, Essa Al Awad
Monochorionic (MC) twin pregnancies are known to carry a high risk of twin-to-twin transfusion syndrome (TTTS) that could lead to miscarriage and perinatal death. Demise of one fetus is frequently associated with co-fetal death. Fetal reduction by interstitial laser therapy is an effective procedure to prevent this outcome, but it may be associated with significant risks for both mother and fetus. Aplasia Cutis Congenita (ACC) may occur in up to 8% cases of fetal reduction by laser therapy. We report ACC in a preterm infant, a survivor of interstitial laser therapy for fetal reduction in MC pregnancy...
October 10, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29033051/genetics-of-restless-legs-syndrome-an-update
#17
REVIEW
Félix J Jiménez-Jiménez, Hortensia Alonso-Navarro, Elena García-Martín, José A G Agúndez
A major role of genetic factors in the risk of developing restless legs syndrome (RLS) is supported by the high frequency of positive family history of RLS in patients affected with this disease, and the higher concordance rates in monozygotic twins compared with dizygotic ones in twin studies. In this review we have focused on those reports describing inheritance patterns of RLS, genetic anticipation, the results of studies performed on positivity of family history of RLS, twin studies, linkage studies in familial RLS, genome-wide association studies (GWAS), exome sequencing studies, and case-control association studies on candidate genes in RLS...
August 31, 2017: Sleep Medicine Reviews
https://www.readbyqxmd.com/read/29030699/prematurity-and-biliary-atresia-a-30-year-observational-study
#18
Natalie Durkin, Maesha Deheragoda, Mark Davenport
AIM OF STUDY: The diagnosis of biliary atresia (BA) remains challenging and delay can lead to significant morbidity with time to surgery a key factor in determining outcome. Prematurity may impact on outcome potentially delaying diagnosis. We sought to assess whether the premature BA infants (PBA) have a delayed time to surgery and as such, worse outcomes? METHODS: Review of a single-centre prospectively maintained database. Prematurity was defined as delivery < 37/40 gestation...
December 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/29027307/transient-amniotic-fluid-leakage-after-fetoscopic-laser-photocoagulation-for-twin-twin-transfusion-syndrome
#19
Shiyo Ota, Keisuke Ishii, Hiroshi Kawamura, Aki Mabuchi, Ryo Yamamoto, Shusaku Hayashi, Takeshi Kanagawa, Nobuaki Mitsuda
AIM: Iatrogenic premature rupture of membrane (PROM) is one of the major complications related to fetoscopic laser photocoagulation (FLP) for twin-twin transfusion syndrome (TTTS). However, amniotic fluid leakage (AFL) sometimes spontaneously disappears. This study evaluated the incidence and clinical characteristics of transient AFL after FLP. METHODS: We retrospectively reviewed pregnancies that underwent FLP for TTTS at a single center. Patients with apparent AFL within 2 weeks after FLP were divided into two groups: transient AFL, defined by the disappearance of fluid leakage within a week; and PROM, if AFL persisted continuously for more than a week or premature birth occurred, including miscarriage, within a week of the first symptom of AFL...
October 13, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29025107/vanishing-twin-syndrome-among-art-singletons-and-pregnancy-outcomes
#20
Maria C Magnus, Sara Ghaderi, Nils-Halvdan Morken, Per Magnus, Liv Bente Romundstad, Rolv Skjærven, Allen J Wilcox, Siri Eldevik Håberg
STUDY QUESTION: Among babies born by ART, do singleton survivors of a vanishing twin have lower birth weight than other singletons? SUMMARY ANSWER: Vanishing twin syndrome (VTS) was associated with lower birth weight among ART singletons; a sibship analysis indicated that the association was not confounded by maternal characteristics that remain stable between deliveries. WHAT IS KNOWN ALREADY: Previous studies indicate that ART singletons with VTS have increased risk of adverse pregnancy outcomes, compared with other ART singletons...
November 1, 2017: Human Reproduction
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