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Trisomy 21

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https://www.readbyqxmd.com/read/29681208/maternal-serum-laeverin-aminopeptidase-q-measured-in-the-first-trimester-of-pregnancy-does-not-predict-preeclampsia
#1
Kasper Pihl, Steen Sørensen, Mona Nystad, Ganesh Acharya, Finn S Jørgensen
OBJECTIVE: The aim of this study was to compare the laeverin level in maternal serum from first trimester (11-14 weeks) of pregnancy between normal pregnancies and pregnancies that later developed preeclampsia (PE). MATERIAL AND METHODS: This was a case-cohort study. The laeverin concentration was measured in cases with preterm PE (n = 55), term PE (n = 95), and a reference group of randomly selected women with normal pregnancy outcome (n = 200) in stored serum samples collected from the double-test as part of the combined first trimester trisomy 21 screening program...
April 22, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29666354/double-trisomy-xxx-21-karyotype-in-a-six-year-old-girl-with-down-phenotype
#2
Laura Daniela Vergara-Mendez, Claudia Talero-Gutiérrez, Alberto Velez-Van-Meerbeke
We describe a case of a six-year-old girl who presents multiple dysmorphic features characteristic of Down's syndrome. She has a significant general developmental delay, with a score that correspond to 32 months of developmental age. This delay is especially in language, with a very scant vocabulary. She communicates with some hand sign words or pointing, although her auditory responses in hearing test were normal. Two previous karyotype studies showed 47, XXX, +21 anomalies. This double trisomy is a rare condition described in isolated cases in the literature and none of these refers to the developmental aspects of these children (Balwan et al...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29663466/first-trimester-screening-for-major-cardiac-defects-based-on-the-ductus-venosus-flow-in-fetuses-with-trisomy-21
#3
Philipp Wagner, Jiri Sonek, Katrin Eberle, Harald Abele, Markus Hoopmann, Natalia Prodan, Karl Oliver Kagan
OBJECTIVE: To examine whether in fetuses with trisomy 21 (T21), the ductus venosus (DV) flow differs in presence of a major cardiac defect (CHD) and whether this affects the risk distribution in first trimester screening for T21. METHODS: Retrospective study involving pregnant women who underwent first trimester screening. This involves an examination of the CRL, the NT, the DV flow, and the heart. 3 groups of fetuses were examined: euploid without CHD, T21 with and without CHD...
April 16, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29662711/segmental-duplication-quantitative-fluorescent-polymerase-chain-reaction-an-approach-for-the-diagnosis-of-down-syndrome-in-india
#4
Ambreen Asim, Sarita Agarwal
Objective: Early detection of high-risk pregnancies for Down syndrome (DS) is the main target of offering prenatal diagnosis. Segmental duplication-quantitative fluorescent-polymerase chain reaction (SD-QF-PCR) can be used as an alternative method for prenatal diagnosis of DS. SD-QF-PCR involves SD sequences between the test and control chromosomes to detect aneuploidies. SD are two similar sequences with different fragment lengths, located on two different chromosomes. When these SD regions are amplified, the peak ratio between the two different chromosomes remains as 0...
March 2018: Turkish Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29628304/targeting-amyloid-%C3%AE-precursor-protein-app-splicing-with-antisense-oligonucleotides-reduces-toxic-amyloid-%C3%AE-production
#5
Jennifer L Chang, Anthony J Hinrich, Brandon Roman, Michaela Norrbom, Frank Rigo, Robert A Marr, Eric M Norstrom, Michelle L Hastings
Alterations in amyloid beta precursor protein (APP) have been implicated in cognitive decline in Alzheimer's disease (AD), which is accelerated in Down syndrome/Trisomy 21 (DS/TS21), likely due to the extra copy of the APP gene, located on chromosome 21. Proteolytic cleavage of APP generates amyloid-β (Aβ) peptide, the primary component of senile plaques associated with AD. Reducing Aβ production is predicted to lower plaque burden and mitigate AD symptoms. Here, we designed a splice-switching antisense oligonucleotide (SSO) that causes skipping of the APP exon that encodes proteolytic cleavage sites required for Aβ peptide production...
March 6, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29611199/preliminary-study-of-protein-changes-in-trisomy-21-fetus-by-proteomics-analysis-in-amniocyte
#6
Hui Liu, He Wang, Zhu Hongmei, Haixia Zhang, Shanling Liu
OBJECTIVE: To discover the candidate biomarker proteins of trisomy 21 in amniocytes. METHODS: Amniocentesis was performed to collect AF from women who underwent prenatal diagnosis due to high risk of T21 at 18th -21st week of gestation. Amniocyte samples were collected and karyotyping analysis was used to confirm the chromosomal status (Eighteen samples of T21 amniocytes and twenty samples of chromosomally normal ones). Then backup samples for cytogenetic test were used in this study...
April 2, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29609228/-prenatal-diagnosis-of-women-with-an-adverse-reproductive-history-using-both-traditional-karyotyping-and-snp-array
#7
H S Yu, H Guo, S S Shen, X C Li, L P Zhang, X F Fan
Objective: To explore the occurrence of fetal chromosomal abnormalities among pregnant women with an adverse reproductive history using traditional karyotyping and single nucleotide polymorphism microarray (SNP-array) technology. Methods: Totally 94 in 2 163 (4.35%) cases of singleton pregnant women with an adverse reproductive history were performed amniocentesis in Jinhua Maternal and Child Health Care Hospital from June 2015 to June 2017. Traditional karyotyping and SNP-array were employed simultaneously for prenatal diagnosis, and the detection rates of the two methods were compared...
March 25, 2018: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/29588075/surgical-management-of-functional-constipation-an-intermediate-report-of-a-new-approach-using-a-laparoscopic-sigmoid-resection-combined-with-malone-appendicostomy
#8
Alessandra Gasior, Carlos Reck, Alejandra Vilanova-Sanchez, Karen A Diefenbach, Desalegn Yacob, Peter Lu, Karla Vaz, Carlo Di Lorenzo, Marc A Levitt, Richard J Wood
INTRODUCTION: We previously reported our surgical technique for functional constipation for patients who have failed medical management using a novel collaborative approach with gastroenterology input, pre-operative contrast enema, colonic manometry, and laxative protocol combined with a laparoscopic colonic resection with Malone appendicostomy. Now we report our intermediate outcomes. METHODS: Patients who failed bowel management program for functional constipation were reviewed from 3/2014-2/2017...
March 7, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29587359/down-syndrome-obesity-alzheimer-s-disease-and-cancer-a-brief-review-and-hypothesis
#9
REVIEW
Daniel W Nixon
Down syndrome (trisomy 21), a complex mix of physical, mental, and biochemical issues, includes an increased risk of Alzheimer's disease and childhood leukemia, a decreased risk of other tumors, and a high frequency of overweight/obesity. Certain features related to the third copy of chromosome 21 (which carries the APP gene and several anti-angiogenesis genes) create an environment favorable for Alzheimer's disease and unfavorable for cancer. This environment may be enhanced by two bioactive compounds from fat cells, leptin, and adiponectin...
March 24, 2018: Brain Sciences
https://www.readbyqxmd.com/read/29584757/transcriptome-analysis-of-genetically-matched-human-induced-pluripotent-stem-cells-disomic-or-trisomic-for-chromosome-21
#10
Patrick K Gonzales, Christine M Roberts, Virginia Fonte, Connor Jacobsen, Gretchen H Stein, Christopher D Link
Trisomy of chromosome 21, the genetic cause of Down syndrome, has the potential to alter expression of genes on chromosome 21, as well as other locations throughout the genome. These transcriptome changes are likely to underlie the Down syndrome clinical phenotypes. We have employed RNA-seq to undertake an in-depth analysis of transcriptome changes resulting from trisomy of chromosome 21, using induced pluripotent stem cells (iPSCs) derived from a single individual with Down syndrome. These cells were originally derived by Li et al, who genetically targeted chromosome 21 in trisomic iPSCs, allowing selection of disomic sibling iPSC clones...
2018: PloS One
https://www.readbyqxmd.com/read/29576544/the-genetic-background-and-application-of-down-syndrome-mouse-models
#11
Xiao-Wei Meng, Jie Wang, Qing-Wen Ma
Down syndrome (DS), trisomy chromosome 21 (Hsa21), is the most common genetic disease caused by chromosome aberration in the human genome. Modeling DS in mice has been challenging since the orthologs of Hsa21 genes map to separate segments of three mouse chromosomes, Mmu16, Mmu17, and Mmu10. Although the early Ts65Dn mouse model exhibited various DS phenotypes, the duplicated fragments were randomly generated by ionizing radiation and did not include all Hsa21 orthologs. In 2004, the successful use of the Cre/LoxP recombination technique in chromosomal engineering in the construction of the Ts1Rhr mouse strain solved the problem of duplication of specific chromosome segment, resulting in the establishment of specific DS mouse models with accurate triplication of particular genes and associated phenotypes...
March 20, 2018: Yi Chuan, Hereditas
https://www.readbyqxmd.com/read/29575086/application-of-noninvasive-prenatal-testing-in-pregnancies-with-fetal-double-bubble-sign-is-it-feasible
#12
Lv-Yin Huang, Li Zhen, Min Pan, Jin Han, Xin Yang, Dong-Zhi Li
OBJECTIVE: To evaluate the application of noninvasive prenatal testing as an alternative to invasive diagnostic testing in pregnancies with the double bubble sign. METHODS: This was a retrospective analysis of 92 pregnancies with fetal double bubble identified by prenatal ultrasound, in which invasive diagnostic testing was performed for genetic investigations using quantitative fluorescence PCR and chromosomal microarray. Noninvasive prenatal testing was assumed to provide to patients for screening for the common aneuploidies...
March 25, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29573438/clinical-application-of-chromosomal-microarray-analysis-for-the-prenatal-diagnosis-of-chromosomal-abnormalities-and-copy-number-variations-in-fetuses-with-congenital-heart-disease
#13
Yu Xia, Yongchao Yang, Shufang Huang, Yueheng Wu, Ping Li, Jian Zhuang
OBJECTIVES: This study aimed to determine chromosomal abnormalities and copy number variations (CNVs) in fetuses with congenital heart disease (CHD) by chromosomal microarray analysis (CMA). METHODS: One hundred ten cases with CHD detected by prenatal echocardiography were enrolled in the study; 27 cases were simple CHDs and 83 were complex CHDs. CMA was performed on the Affymetrix CytoScan HD platform. All annotated CNVs were validated by qPCR. RESULTS: CMA identified 6 cases with chromosomal abnormalities, including 2 cases with trisomy 21, 2 cases with trisomy 18, 1 case with trisomy 13, and 1 unusual case of mosaic trisomy 21...
March 24, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29563973/down-syndrome-associated-childhood-myeloid-leukemia-with-yet-unreported-acquired-chromosomal-abnormalities-and-a-new-potential-adverse-marker-dup-1-q25q44
#14
Faten Moassass, Abdulsamad Wafa, Thomas Liehr, Ayman Al-Ablog, Walid Al Achkar
Background: Children with constitutional trisomy 21, i.e. Down syndrome (DS, OMIM #190685) have a 10 to 20-fold increased risk for a hematopoietic malignancy. They may suffer from acute lymphoblastic leukemia or acute myeloid leukemia (AML). AML referred to as myeloid leukemia of Down syndrome (ML-DS) is observed especially after birth at an early gestational age and characterized by enhanced white blood cell count, failure of spontaneous remission, liver fibrosis or liver dysfunction, and is significantly associated with early death...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29553860/characteristics-of-prenatally-detected-right-aortic-arch-cases-in-a-single-institution
#15
Melih Velipasaoglu, Metin Sentürk, Reyhan Ayaz, Barbaros Atesli, H Mete Tanir
This study aimed to elucidate the diagnostic process, the associated anomalies and the perinatal outcomes of right aortic arch (RAA) in a group of low-risk patients. The obstetric imaging database and digital patient files were reviewed between January 2015 and June 2016. There were 12 RAA cases detected prenatally. Seven foetuses had an aberrant left subclavian artery and one foetus had mirror image branching. The prevalence of RAA was 1.8 in 1000. Invasive prenatal diagnosis was offered to patients and seven tests were performed...
March 19, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29553859/a-retrospective-exploratory-study-of-fetal-genetic-invasive-procedures-at-a-university-hospital
#16
Chitra Andrew, Teena Koshy, Shivani Gopal, Solomon Franklin Durairaj Paul
This is a retrospective analysis of the patient demographics and cytogenetic results of patients who underwent prenatal invasive testing for genetic analysis at the Foetal Medicine Division of the Department of Obstetrics and Gynecology, Sri Ramachandra Medical College and Research Institute. The main objective of this study was to characterise the changing trends in indications of pregnant women for foetal karyotyping in a 7-year period. A total of 257 procedures were performed in this period, and there was a significant change in the trend of indications for invasive prenatal diagnosis from an advanced maternal age in 2009 to a positive screen test by 2014...
March 19, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29553099/chromosomal-karyotype-in-chorionic-villi-of-recurrent-spontaneous-abortion-patients
#17
Yan Du, Lanting Chen, Jing Lin, Jun Zhu, Na Zhang, Xuemin Qiu, Dajin Li, Ling Wang
Recurrent spontaneous abortion (RSA) is a multifactorial disease of which the exact causes are still unknown. In the current study, we aimed to analyze the distribution of abnormal embryonic karyotypes in RSA. 781 RSA patients of 17 hospitals in Shanghai from January 2014 to September 2016 were enrolled. Fetal villus tissues were collected during uterine curettage and then cultured in situ for karyotyping. All of the 781 cases were successfully cultured. There were 393 cases of abnormal karyotypes, accounting for 50...
2018: Bioscience Trends
https://www.readbyqxmd.com/read/29553089/is-trisomy-21-a-risk-factor-for-rapid-progression-of-pulmonary-arteriopathy-revisiting-histopathological-characteristics-using-282-lung-biopsy-specimens
#18
Naoki Masaki, Yuriko Saiki, Masato Endo, Kay Maeda, Osamu Adachi, Masatoshi Akiyama, Shunsuke Kawamoto, Yoshikatsu Saiki
BACKGROUND: Pulmonary hypertension (PH) is more progressive in trisomy 21 patients. However, pulmonary arteriopathic lesions in these patients have not been fully characterized histopathologically.Methods and Results:A retrospective review of a lung biopsy registry identified 282 patients: 188 patients with trisomy 21 (Group D) and 94 without (Group N). The mean age at lung biopsy was 3 and 7 months (P<0.0001). Pulmonary arterial pressure (PAP) and pulmonary vascular resistance were similar between the 2 groups...
March 16, 2018: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/29544417/predictors-of-pericardial-effusion-in-patients-undergoing-pulmonary-artery-banding
#19
Mio Noma, Muneaki Matsubara, Chiho Tokunaga, Tomomi Nakajima, Bryan James Mathis, Hiroaki Sakamoto, Yuji Hiramatsu
BACKGROUND: Although pulmonary artery banding (PAB) is a common palliative procedure for pediatric heart malformation, there are concerns of pressure overload and concomitant immune reactions in the right ventricle causing postsurgical complications such as pericardial effusion. At this time, no clear guidelines as to potential risk factors or procedural contraindications have been widely disseminated. Therefore, a study was undertaken to examine wide-ranging factors to find potential biomarkers for postsurgical pericardial effusion formation risk...
March 2018: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/29541814/identification-of-de-novo-and-rare-inherited-copy-number-variants-in-children-with-syndromic-congenital-heart-defects
#20
Ibtessam R Hussein, Rima S Bader, Adeel G Chaudhary, Randa Bassiouni, Maha Alquaiti, Fai Ashgan, Hans-Juergen Schulten, Mohammad H Al Qahtani
Congenital heart defects (CHDs) are the most common birth defects in neonatal life. CHDs could be presented as isolated defects or associated with developmental delay (DD) and/or other congenital malformations. A small proportion of cardiac defects are caused by chromosomal abnormalities or single gene defects; however, in a large proportion of cases no genetic diagnosis could be achieved by clinical examination and conventional genetic analysis. The development of genome wide array-Comparative Genomic Hybridization technique (array-CGH) allowed for the detection of cryptic chromosomal imbalances and pathogenic copy number variants (CNVs) not detected by conventional techniques...
March 14, 2018: Pediatric Cardiology
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