keyword
MENU ▼
Read by QxMD icon Read
search

"Edwards Syndrome"

keyword
https://www.readbyqxmd.com/read/29033740/child-with-edward-s-syndrome-for-radiological-procedure-an-anesthetic-challenge
#1
Gaurav Singh Tomar, Shailendra Kumar, Keshav Goyal, Arvind Chaturvedi
No abstract text is available yet for this article.
October 2017: Saudi Journal of Anaesthesia
https://www.readbyqxmd.com/read/28981940/-prenatal-genetic-analysis-of-a-fetus-with-wolf-hirschhorn-syndrome-and-edward-syndrome
#2
Xueping Shen, Pingya He, Rong Fang, Juan Yao, Wenwen Li
OBJECTIVE: To screen for genomic copy number variants (CNVs) in a fetus with cardiac abnormalities and intrauterine growth retardation through single nucleotide polymorphism microarray (SNP array) and karyotyping analysis. METHODS: The fetus and its parents were subjected to conventional G banding and SNP-array analysis. The results were confirmed with fluorescence in situ hybridization (FISH). RESULTS: G-banding analysis showed that the fetus has a karyotype of 47,XX,+mar...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28895703/-double-aneuploidy-klinefelter-and-edwards-syndromes-48-xxy-18-case-report
#3
Mailén Costa, Silvia Ávila
The co-existence of a double chromosomal abnormality in one individual is a rare event, even more the simultaneous presence of Klinefelter (XXY) and Edwards (trisomy 18) syndrome. The aim of this article is to report the case of a newborn with a double aneuploidy, which consists in the coexistence of Edwards and Klinefelter syndrome. The patient's phenotype correlates mainly with Edwards syndrome. The diagnosis is made by performing the cytogenetics (karyotype) of peripheral blood lymphocytes. Only 15 cases of patients with Klinefelter and Edwards syndromes had been reported in literature so far...
October 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28544599/a-tumor-profile-in-patau-syndrome-trisomy-13
#4
Daniel Satgé, Motoi Nishi, Nicolas Sirvent, Michel Vekemans, Marie-Pierre Chenard, Ann Barnes
Individuals with trisomic conditions like Down syndrome and Edwards syndrome are prone to certain types of malignancy. However, for Patau syndrome (constitutional trisomy 13), which occurs in 1/10,000-1/20,000 live births, the tumor profile has not been well characterized. An awareness of susceptibility to malignancies can improve care of affected individuals, as well as further our understanding of the contribution of trisomy to carcinogenesis. Therefore, we conducted an extensive review of the literature; we found 17 malignancies reported in individuals with Patau syndrome...
May 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28449223/the-impact-of-a-sibling-s-life-limiting-genetic-condition-on-adult-brothers-and-sisters
#5
Erica Brown, Jane Coad, Anita Franklin
It is estimated that rare diseases affect the lives of over three million people in the United Kingdom. Of these, a significant proportion are children and young people with genetic life-limiting or life-shortening conditions. This study used a qualitative approach with in-depth semi-structured interviews to explore the experiences of 10 adult siblings of a baby diagnosed with Trisomy 13 (Patau syndrome) or Trisomy 18 (Edward syndrome). Findings illustrate that parental grief from the time of their child's diagnosis onward is also experienced by siblings...
April 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28328132/revised-estimates-of-the-risk-of-fetal-loss-following-a-prenatal-diagnosis-of-trisomy-13-or-trisomy-18
#6
Alana Cavadino, Joan K Morris
Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13) both have high natural fetal loss rates. The aim of this study was to provide estimates of these fetal loss rates by single gestational week of age using data from the National Down Syndrome Cytogenetic Register. Data from all pregnancies with Edwards or Patau syndrome that were prenatally detected in England and Wales from 2004 to 2014 was analyzed using Kaplan-Meier survival estimates. Pregnancies were entered into the analysis at the time of gestation at diagnosis, and were considered "under observation" until the gestation at outcome...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27927129/edwards-syndrome
#7
Doreen Crawford, Annette Dearmun
Edwards' syndrome is a serious genetic condition that affects fetal cellular functions, tissue development and organogenesis. Most infants with the syndrome are female, but there is no race predominance.
December 8, 2016: Nursing Children and Young People
https://www.readbyqxmd.com/read/27617135/a-case-of-anterior-segment-dysgenesis-with-iridolenticular-adhesions-in-trisomy-18
#8
Paldeep S Atwal
Trisomy 18 (or Edwards syndrome) has an incidence of 1 in 6,000 to 8,000 live births, making it the second most common trisomy after trisomy 21. Ophthalmologic anomalies include epicanthal folds, hypertelorism, and hypoplastic supraorbital ridges, whereas corneal opacities, microcornea, congenital glaucoma, cataract, retinal depigmentation, retinal vascular tortuosity, colobomatous microphthalmia, and cyclopia are thought to be less common; iridolenticular adhesions have not been previously reported. Our patient was a female with confirmed trisomy 18 with ophthalmologic examination revealing corneal opacities and iridolenticular adhesions...
December 2015: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27525073/anesthetic-management-of-a-patient-with-edwards-syndrome
#9
Stephanie Mifsud, Maureen Bezzina, Simon Paris
The use of suxamethonium in our case was uneventful and despite craniofacial anomalies, airway management was straightforward. This case illustrates that pediatric patients with trisomy 18, presenting with potentially acute life-threatening conditions and requiring emergency major surgery can be managed successfully with a multidisciplinary approach.
August 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27490343/microarray-based-analysis-of-methylation-of-1st-trimester-trisomic-placentas-from-down-syndrome-edwards-syndrome-and-patau-syndrome
#10
MULTICENTER STUDY
Lotte Hatt, Mads M Aagaard, Cathrine Bach, Jesper Graakjaer, Steffen Sommer, Inge E Agerholm, Steen Kølvraa, Anders Bojesen
Methylation-based non-invasive prenatal testing of fetal aneuploidies is an alternative method that could possibly improve fetal aneuploidy diagnosis, especially for trisomy 13(T13) and trisomy 18(T18). Our aim was to study the methylation landscape in placenta DNA from trisomy 13, 18 and 21 pregnancies in an attempt to find trisomy-specific methylation differences better suited for non-invasive prenatal diagnosis. We have conducted high-resolution methylation specific bead chip microarray analyses assessing more than 450,000 CpGs analyzing placentas from 12 T21 pregnancies, 12 T18 pregnancies and 6 T13 pregnancies...
2016: PloS One
https://www.readbyqxmd.com/read/27474103/a-tumor-profile-in-edwards-syndrome-trisomy-18
#11
REVIEW
Daniel Satgé, Motoi Nishi, Nicolas Sirvent, Michel Vekemans
Constitutional trisomy 18 causes Edwards syndrome, which is characterized by intellectual disability and a particular set of malformations. Although this condition carries high mortality during prenatal and early postnatal life, some of the rare infants who survive the first months develop benign and malignant tumors. To determine the tumor profile associated with Edwards syndrome, we performed a systematic review of the literature. This review reveals a tumor profile differing from those of Down (trisomy 21) and Patau (trisomy 13) syndromes...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27366581/anaesthesia-management-for-edward-s-syndrome-trisomy-18
#12
Çağla Bali, Özlem Özmete, Pınar Ergenoğlu, Şule Akın, Anış Arıboğan
No abstract text is available yet for this article.
June 2016: Turkish Journal of Anaesthesiology and Reanimation
https://www.readbyqxmd.com/read/27323182/genetic-polymorphisms-of-loci-d18s53-d18s59-and-d18s488-in-fetuses-from-a-chinese-tianjin-han-population
#13
X Z Li, J Liu, Y F Shi, D Ju, Y Zhang, T F Yue
We investigated the genetic polymorphisms of three short tandem repeat (STR) loci, D18S53, D18S59, and D18S488, on chromosome 18 in fetuses from a Chinese Tianjin Han population. Sixty-four villus samples and 374 amniotic fluid samples were collected from fetuses. Quantitative fluorescence polymerase chain reaction was performed to amplify the STR loci, followed by scanned electrophoresis and quantitative analysis of the fluorescence signals. Hardy-Weinberg equilibrium (HWE) analysis was performed based on the genotype distributions of the STR loci to obtain the following population genetic data: genotype frequency, heterozygosity of observation (HO), polymorphism information content (PIC), probability of discrimination power (PD), and probability of exclusion (PE)...
June 16, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/26770846/aberrant-barbed-wire-nuclear-projections-of-neutrophils-in-trisomy-18-edwards-syndrome
#14
Basil M Kahwash, Nicholas B Nowacki, Samir B Kahwash
We discuss the significance of neutrophils with increased, aberrant nuclear projections mimicking "barbed-wire" in a newborn child with trisomy 18 (T18). Increased, aberrant nuclear projections have been previously reported in trisomy of the D group of chromosomes (chromosomes 13, 14, and 15), and we report similar findings in a patient with T18. The peripheral blood smear showed relative neutrophilia with the majority (37%) of neutrophils showing two or more thin, rod-shaped or spike-shaped, and often pedunculated aberrant nuclear projections...
2015: Case Reports in Hematology
https://www.readbyqxmd.com/read/26752631/two-dimensional-differential-gel-electrophoresis-to-identify-protein-biomarkers-in-amniotic-fluid-of-edwards-syndrome-trisomy-18-pregnancies
#15
Te-Yao Hsu, Hao Lin, Hsuan-Ning Hung, Kuender D Yang, Chia-Yu Ou, Ching-Chang Tsai, Hsin-Hsin Cheng, Su-Hai Chung, Bi-Hua Cheng, Yi-Hsun Wong, An Kuo Chou, Chang-Chun Hsiao
BACKGROUND: Edwards syndrome (ES) is a severe chromosomal abnormality with a prevalence of about 0.8 in 10,000 infants born alive. The aims of this study were to identify candidate proteins associated with ES pregnancies from amniotic fluid supernatant (AFS) using proteomics, and to explore the role of biological networks in the pathophysiology of ES. METHODS: AFS from six second trimester pregnancies with ES fetuses and six normal cases were included in this study...
2016: PloS One
https://www.readbyqxmd.com/read/26561224/phenotypic-extremes-in-liveborn-monozygotic-twins-with-mosaic-edwards-syndrome
#16
Neidin Bussmann, Katie Cunningham, Andrew Green, C Anthony Ryan
Mosaic trisomy 18 (Edwards syndrome) in monozygotic diamniotic liveborn twins is rare. We describe such a case involving preterm male infants. Although both infants had a low percentage of trisomy 18 cells in peripheral blood leucocytes, their varied phenotypic presentation of mosaic trisomy 18 resulted in one twin surviving, with the other twin's demise at 1 month of age. Despite the presence of trisomy 18 in peripheral leucocytes, further analysis of a buccal smear and skin biopsy of the surviving twin did not show evidence of trisomy 18...
November 11, 2015: BMJ Case Reports
https://www.readbyqxmd.com/read/26530119/-non-invasive-prenatal-testing-challenges-for-future-implementation
#17
Lidewij Henneman, G C M L Lieve Page-Chrisiaens, Dick Oepkes
The non-invasive prenatal test (NIPT) is an accurate and safe test in which blood from the pregnant woman is used to investigate if the unborn child possibly has trisomy 21 (Down's syndrome), trisomy 18 (Edwards' syndrome) or trisomy 13 (Patau syndrome). Since April 2014 the NIPT has been available in the Netherlands as part of the TRIDENT implementation project for those in whom the first trimester combined test showed an elevated risk (> 1:200) of trisomy, or on medical indication, as an alternative to chorionic villous sampling or amniocentesis...
2015: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/26507407/cytogenetic-studies-of-rwandan-pediatric-patients-presenting-with-global-developmental-delay-intellectual-disability-and-or-multiple-congenital-anomalies
#18
Annette Uwineza, Janvier Hitayezu, Mauricette Jamar, Jean-Hubert Caberg, Seraphine Murorunkwere, Ndinkabandi Janvier, Vincent Bours, Leon Mutesa
Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ <75 in addition to impairment in adaptive functioning. Cytogenetic studies have been performed in 664 Rwandan pediatric patients presenting GDD/ID and/or multiple congenital abnormalities (MCA)...
February 2016: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/26453443/an-analysis-of-cardiac-defects-and-surgical-interventions-in-84-cases-with-full-trisomy-18
#19
Deborah A Bruns, Alyssa Martinez
Trisomy 18 (Edwards syndrome) is the second most common autosomal trisomy after trisomy 21. Medical issues commonly include cardiac defects, such as ventricular septal defect (VSD) and atrial septal defect (ASD). If untreated, these conditions can contribute to the associated infant mortality. The objective of the study was review parent-reported information on 84 cases with full trisomy 18 focusing on prenatal and postnatal assessment and confirmation of cardiac defects and on subsequent treatment with cardiac surgery and post-surgery outcomes...
February 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26400291/systematic-review-of-noninvasive-prenatal-diagnosis-for-abnormal-chromosome-genetic-diseases-using-free-fetal-dna-in-maternal-plasma
#20
REVIEW
H Yang, H B Xu, T T Liu, X L He
We evaluated the system accuracy of noninvasive prenatal diagnosis for abnormal chromosome genetic diseases using cell-free fetal DNA in maternal plasma. Previous studies were searched in the MEDLINE database using the following keywords: "prenatal" and "aneuploidy" and "noninvasive or non-invasive" and "maternal". Identified studies were filtered using a QUADAS instrument. Four studies were identified and analyzed using QUADAS. The studies included 4167 cases of Down syndrome patients determined by noninvasive prenatal diagnosis with a sensitivity of 100% and specificity of 99...
2015: Genetics and Molecular Research: GMR
keyword
keyword
93459
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"