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https://www.readbyqxmd.com/read/29350746/positive-view-and-increased-likely-uptake-of-follow-up-testing-with-analysis-of-cell-free-fetal-dna-as-alternative-to-invasive-testing-among-danish-pregnant-women
#1
Caroline Borregaard Miltoft, Line Rode, Ann Tabor
INTRODUCTION: To investigate the attitude (view, likely uptake and preferred strategy) towards cell-free fetal DNA (cfDNA) testing among pregnant women before a first trimester risk assessment for trisomy 21 (unselected women) and after obtaining a high risk. MATERIAL AND METHODS: Unselected and high-risk women attending first trimester screening (Rigshospitalet, Copenhagen University Hospital) were invited to fill out the questionnaire "Antenatal testing for Down's syndrome" as an online survey...
January 19, 2018: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/29342922/can-egcg-alleviate-symptoms-of-down-syndrome-by-altering-proteolytic-activity
#2
REVIEW
Marzena Wyganowska-Świątkowska, Maja Matthews-Kozanecka, Teresa Matthews-Brzozowska, Ewa Skrzypczak-Jankun, Jerzy Jankun
Down syndrome (DS), also known as "trisomy 21", is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. Silencing these extra genes is beyond existing technology and seems to be impractical. A number of pharmacologic options have been proposed to change the quality of life and lifespan of individuals with DS. It was reported that treatment with epigallocatechin gallate (EGCG) improves cognitive performance in animal models and in humans, suggesting that EGCG may alleviate symptoms of DS...
January 15, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29340812/partial-amniotic-carbon-dioxide-insufflation-paci-during-minimally-invasive-fetoscopic-interventions-on-fetuses-with-spina-bifida-aperta
#3
Miriam Ziemann, Rolf Fimmers, Anastasiia Khaleeva, Rainer Schürg, Markus A Weigand, Thomas Kohl
BACKGROUND: Percutaneous partial amniotic carbon dioxide insufflation (PACI) is one of the most important means for improving visualization during minimally invasive fetoscopic surgery of fetal spina bifida. The purpose of the present study was to analyze maternal and fetal safety aspects of PACI in a recent patient cohort and to present management improvements. METHODS: PACI under general materno-fetal anesthesia was performed during 65 interventions for fetoscopic patch coverage of fetal spina bifida aperta between 21 + 0 and 29 + 1 weeks of gestation...
January 16, 2018: Surgical Endoscopy
https://www.readbyqxmd.com/read/29340729/pulmonary-valve-morphology-in-patients-with-bicuspid-aortic-valves
#4
Wilke M C Koenraadt, Margot M Bartelings, Adriana C Gittenberger-de Groot, Regina Bökenkamp, Marco C DeRuiter, Martin J Schalij, Monique R M Jongbloed
The aortic and pulmonary valve share a common developmental origin from the embryonic arterial trunk. Bicuspid aortic valve is the most common congenital anomaly and can occur isolated as well as in association with other congenital heart disease (CHD). Data on pulmonary valve morphology in these cases are scarce. In this study, we aimed to determine pulmonary valve morphology in hearts with BAV associated with CHD. In 83 post-mortem heart specimens with BAV and associated CHD, pulmonary valve morphology was studied and related to BAV morphology...
January 16, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29338474/subarachnoid-space-diameter-in-chromosomally-abnormal-fetuses-at-11-13-weeks-gestation
#5
Carolina Ferreira, Ana Lidia Rouxinol-Dias, Teresa Loureiro, Kypros Nicolaides
OBJECTIVES: To examine the subarachnoid space diameters in chromosomally abnormal fetuses at 11-13 weeks' gestation. METHODS: Stored three-dimensional (3D) ultrasound volumes of the fetal head at 11-13 weeks' gestation from 407 euploid and 88 chromosomally abnormal fetuses (trisomy 21, n = 40; trisomy 18, n = 19; trisomy 13, n = 7; triploidy, n = 14; Turner syndrome, n = 8) were analyzed. The subarachnoid space diameters, measured in the sagittal and transverse planes of the fetal head, in relation to biparietal diameter (BPD) in each group of aneuploidies was compared to that in euploid fetuses...
January 16, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29336635/lymphomatoid-granulomatosis-in-a-14-year-old-boy-with-trisomy-21-and-history-of-b-lymphoblastic-leukemia-lymphoma
#6
Anna Paulina Matynia, Sherrie L Perkins, David Li
BACKGROUND: Lymphomatoid granulomatosis is a EBV-driven lymphoproliferative disorder that has been reported in association with immunodeficiency, but only exceptionally in patients with hematopoietic malignancy. CASE REPORT: A 14-year-old boy with trisomy-21 and a history of B-lymphoblastic leukemia/lymphoma (B-ALL) diagnosed 1.5 years prior, on maintenance chemotherapy, presented with fever and respiratory symptoms. Chest X-ray revealed right-lower-lobe consolidation...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29330546/older-mothers-and-increased-impact-of-prenatal-screening-stable-livebirth-prevalence-of-trisomy-21-in-the-netherlands-for-the-period-2000-2013
#7
Maurike D de Groot-van der Mooren, Saskia Tamminga, Dick Oepkes, Michel E Weijerman, Martina C Cornel
In the Netherlands, there is no registry system regarding the livebirth prevalence of trisomy 21 (T21). In 2007, a national screening programme was introduced for all pregnant women, which may have changed the livebirth prevalence of T21. The aim of this study is to analyse trends in factors that influence livebirth prevalence of T21 and to estimate the livebirth prevalence of T21 for the period of 2000-2013. National data sets were used on the following: (1) livebirths according to maternal age and (2) prenatal testing and termination of pregnancy (ToP) following diagnosis of T21...
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29325624/sex-chromosome-aneuploidies
#8
David Skuse, Frida Printzlau, Jeanne Wolstencroft
Sex chromosome aneuploidies comprise a relatively common group of chromosome disorders characterized by the loss or gain of one or more sex chromosomes. We discuss five of the better-known sex aneuploidies: Turner syndrome (XO), Klinefelter syndrome (XXY), trisomy X (XXX), XYY, and XXYY. Despite their prevalence in the general population, these disorders are underdiagnosed and the specific genetic mechanisms underlying their phenotypes are poorly understood. Although there is considerable variation between them in terms of associated functional impairment, each disorder has a characteristic physical, cognitive, and neurologic profile...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29324645/esophageal-web-in-a-down-syndrome-infant-a-rare-case-report
#9
Nirmala Thomas, Roy J Mukkada, Muhammed Jasim Abdul Jalal, Nisha Narayanankutty
We describe the rare case of an infant with trisomy 21 who presented with recurrent vomiting and aspiration pneumonia and a failure to thrive. Infants with Down's syndrome have been known to have various problems in the gastrointestinal tract. In the esophagus, what have been described are dysmotility, gastroesophageal reflux and strictures. This infant on evaluation was found to have an esophageal web and simple endoscopic dilatation relieved the infant of her symptoms. No similar case has been reported in literature...
January 11, 2018: Children
https://www.readbyqxmd.com/read/29313983/erratum-to-effect-of-extended-oral-contraception-use-on-the-prevalence-of-fetal-trisomy-21-in-women-aged-at-least-35-years-int-j-gynecol-obstet-138-2017-261-266
#10
Dániel Horányi, Lilla Éva Babay, János Rigó, Balázs Győrffy, Gyula R Nagy
No abstract text is available yet for this article.
February 2018: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29311684/a-severely-short-statured-girl-with-47-xx-%C3%A2-%C3%A2-14-46-xx-upd-14-mat-mosaicism
#11
Kikumi Ushijima, Syuichi Yatsuga, Takako Matsumoto, Akie Nakamura, Maki Fukami, Masayo Kagami
The predominant symptoms of trisomy 14 mosaicism are prenatal and postnatal growth failure, ear abnormalities, congenital heart disease, developmental delay, and genitourinary abnormalities. Maternal uniparental disomy of chromosome 14 (upd(14)mat) presents discernible clinical features such as prenatal and postnatal growth failure, hypotonia, precocious puberty, and obesity. Given the small number of previously reported patients with a combination of trisomy 14 mosaicism and upd(14)mat, the detailed clinical features of these patients remain to be elucidated...
January 9, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29310616/partial-trisomy-16q21%C3%A2-qter-due-to-an-unbalanced-segregation-of-a-maternally-inherited-balanced-translocation-46-xx-t-15-16-p13-q21-a-case-report-and-review-of-literature
#12
R Mishra, C S Paththinige, N D Sirisena, S Nanayakkara, U G I U Kariyawasam, V H W Dissanayake
BACKGROUND: Partial trisomy is often the result of an unbalanced segregation of a parental balanced translocation. Partial trisomy16q is characterized by a common, yet non-specific group of craniofacial dysmorphic features, and systemic malformations with limited post-natal survival. Most of the cases of partial trisomy 16q described in the scientific literature have reported only one, or less frequently two cardiac defects in the affected babies. Herein, we report a case of partial trisomy 16q21➔qter with multiple and complex cardiac defects that have not previously been reported in association with this condition...
January 8, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29303233/high-percentages-of-embryos-with-21-18-or-13-trisomy-are-related-to-advanced-paternal-age-in-donor-egg-cycles
#13
Javier García-Ferreyra, Roly Hilario, Julio Dueñas
OBJECTIVE: Advanced paternal age is related to poor sperm quality; however, little is known on its effect on aneuploidy embryo rates and, more importantly, on chromosomal abnormalities like trisomy 21, 18 and 13. The objective of this study was to evaluate the effect of advanced paternal age on the trisomy rates of the chromosomes 21, 18 or 13 in embryos obtained from donated oocytes. METHODS: A total of 378 embryos, obtained from 52 IVF/ICSI cycles with donated oocytes in conjunction with PGD, were allocated according to paternal age in three groups: Group A: ≤39 years (n=115 embryos), Group B: 40-49 years (n=157 embryos) and Group C: ≥50 year (n=106 embryos)...
January 5, 2018: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/29300981/chromosome-screening-using-noninvasive-prenatal-testing-beyond-trisomy-21-what-to-screen-for-and-why-it-matters
#14
Kristien Hens
With the new and highly accurate noninvasive prenatal test (NIPT), new options for screening become available. I contend that the current state of the art of NIPT is already in need of a thorough ethical investigation and that there are different points to consider before any chromosomal or subchromosomal condition is added to the screening panel of a publicly funded screening program. Moreover, the application of certain ethical principles makes the inclusion of some conditions unethical in a privately funded scheme, even if such screening would enhance a woman's reproductive autonomy...
December 29, 2017: Journal of Medicine and Philosophy
https://www.readbyqxmd.com/read/29296929/red-blood-cell-metabolism-in-down-syndrome-hints-on-metabolic-derangements-in-aging
#15
Rachel Culp-Hill, Connie Zheng, Julie A Reisz, Keith Smith, Angela Rachubinski, Travis Nemkov, Eric Butcher, Ross Granrath, Kirk C Hansen, Joaquín M Espinosa, Angelo D'Alessandro
Red blood cells (RBCs) are the most abundant cell in the human body. During their ∼120-day life span in the circulatory system, RBCs release oxygen to all human tissues while being exposed to tissue metabolic activity. Owing to the relative simplicity of their intrinsic metabolism and the abundance of metabolite transporters in RBC membranes, the metabolism of mature erythrocytes indirectly mirrors systemic metabolic homeostasis and its alterations as a function of physiological factors, such as aging. Trisomy 21 (T21), the etiological factor of Down syndrome (DS), has been shown to cause chronic autoinflammation, promoting alterations in RBC life span, size (macrocytosis), and redox homeostasis...
December 26, 2017: Blood Advances
https://www.readbyqxmd.com/read/29287853/musculo-mucous-web-velum-and-velopharyngeal-dysfunction-associated-with-8q22-1-22-2-microduplication
#16
Mathieu Trudel, Rachel Laframboise, Jacques E Leclerc
This report presents a rare case of isolated non-cleft velopharyngeal dysfunction (VPD). An eight-year-old child presented 1. a phenotypically unique band-gap pattern of the velar musculature with anteroposterior insertion; 2. a mosaic partial trisomy on chromosome 19 as well as microduplications on chromosomes 8 and 22. Following cytogenetic analysis, microduplication on chromosome 8 was found in another member of her family. A family history of VPI with hypernasality and nasal regurgitation was reported over three different generations on the patient's maternal side...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29285825/targeted-copy-number-screening-highlights-an-intragenic-deletion-of-wdr63-as-the-likely-cause-of-human-occipital-encephalocele-and-abnormal-cns-development-in-zebrafish
#17
Wolfgang Hofmeister, Maria Pettersson, Deniz Kurtoglu, Miriam Armenio, Jesper Eisfeldt, Nikos Papadogiannakis, Peter Gustavsson, Anna Lindstrand
Congenital malformations affecting the neural tube can present as isolated malformations or occur in association with other developmental abnormalities and syndromes. Using high resolution copy number screening in 66 fetuses with neural tube defects we identified 6 fetuses with likely pathogenic mutations, three aneuploidies (one trisomy 13 and two trisomy 18) and three deletions previously reported in NTDs (one 22q11.2 deletion and two 1p36 deletions) corresponding to 9% of the cohort. In addition, we identified five rare deletions and two duplications of uncertain significance including a rare intragenic heterozygous in-frame WDR63 deletion in a fetus with occipital encephalocele...
December 28, 2017: Human Mutation
https://www.readbyqxmd.com/read/29278889/erythromyeloid-derived-trem2-a-major-determinant-of-alzheimer-s-disease-pathology-in-down-syndrome
#18
Ruma Raha-Chowdhury, James W Henderson, Animesh Alexander Raha, Simon R W Stott, Romina Vuono, Simona Foscarin, Liam Wilson, Tiina Annus, Robert Fincham, Kieren Allinson, Vinod Devalia, Robert P Friedland, Anthony Holland, Shahid H Zaman
BACKGROUND: Down syndrome (DS; trisomy 21) individuals have a spectrum of hematopoietic and neuronal dysfunctions, and by the time they reach the age of 40 years, almost all develop Alzheimer's disease (AD) neuropathology which includes senile plaques and neurofibrillary tangles. Inflammation and innate immunity are key players in AD and DS. Triggering receptor expressed in myeloid cells-2 (TREM2) variants have been identified as risk factors for AD and other neurodegenerative diseases...
December 16, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29278735/expanding-the-fanco-rad51c-associated-phenotype-cleft-lip-and-palate-and-lobar-holoprosencephaly-two-rare-findings-in-fanconi-anemia
#19
Adeline Jacquinet, Lindsay Brown, Jessica Sawkins, Pengfei Liu, Denise Pugash, Margot I Van Allen, Millan S Patel
Fanconi anemia is a rare chromosome instability disorder with a highly variable phenotype. In the antenatal and neonatal periods, the diagnosis is usually suggested by the presence of typical congenital abnormalities such as intrauterine growth retardation, microcephaly and radial ray defects. We report a newborn female with a prenatal diagnosis of Fanconi anemia, complementation group O (FANCO). Antenatal ultrasounds identified symmetrical intrauterine growth retardation, complex heart defect as well as brain anomalies, overlapping fingers and cleft lip and palate...
December 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29274935/does-low-papp-a-predict-adverse-placenta-mediated-outcomes-in-a-low-risk-nulliparous-population-the-great-obstetrical-syndromes-gos-study
#20
Amélie Boutin, Cédric Gasse, Suzanne Demers, Geneviève Blanchet, Yves Giguère, Emmanuel Bujold
OBJECTIVE: First-trimester low concentration of pregnancy-associated plasma protein A (PAPP-A) has been associated with adverse perinatal outcomes in high-risk populations. This study aimed to estimate the ability of PAPP-A to identify adverse outcomes in a low-risk population. METHODS: The study investigators recruited nulliparous women with singleton pregnancy at their 11-13-week ultrasound scan. Serum samples were collected, and maternal PAPP-A concentration was measured using the B ⋅ R ⋅ A ⋅ H ⋅ M ⋅ S PAPP-A KRYPTOR (ThermoFisher Scientific, Hennigsdorf, Germany) automated assay...
December 21, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
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