keyword
MENU ▼
Read by QxMD icon Read
search

Trisomy 21

keyword
https://www.readbyqxmd.com/read/27913926/maxillary-length-in-euploid-and-aneuploid-fetuses
#1
Markus Hoopmann, Jiri Sonek, Dominik Goldschmid, Philipp Wagner, Harald Abele, Karl Oliver Kagan
PURPOSE: To examine the maxillary length of euploid and aneuploid fetuses in the second and third trimester. METHODS: Retrospective study utilizing stored 2D images of second and third trimester fetal profiles obtained at the University of Tuebingen, Germany. The length of the maxilla was measured as a straight line between the anterior ventral and posterior ventral edges of the maxilla. RESULTS: The study population consisted of 347 euploid fetuses and 122, 36, 5, 8, and 4 fetuses with trisomy 21, 18, and 13, Turner syndrome, and triploidy...
December 2, 2016: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/27913136/cytogenetic-analysis-of-the-retained-products-of-conception-after-missed-abortion-following-blastocyst-transfer-a-retrospective-large-scale-single-centre-study
#2
Tomoya Segawa, Tomoko Kuroda, Keiichi Kato, Masako Kuroda, Kenji Omi, Osamu Miyauchi, Yoshiaki Watanabe, Tsuyoshi Okubo, Hisao Osada, Shokichi Teramoto
Cytogenetic analysis of the retained products of conception (POC) is the most effective test for identifying miscarriage causes. However, there has been no large-scale study limited to blastocyst transfer. This study retrospectively reports the findings of 1030 cases in which POC analysis was performed after missed abortion following single blastocyst transfer performed at the Shinbashi Yume Clinic. We identified 19.4% as normal karyotypes and 80.6% as aneuploid. These cases broke down into: 62.3% trisomy; 7...
November 21, 2016: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/27912977/functional-outcomes-in-hirschsprung-disease-a-single-institution-s-12-year-experience
#3
Hemanshoo S Thakkar, Christopher Bassett, Andy Hsu, Riccardo Manuele, Dorothy Kufeji, Catherine A Richards, Meena Agrawal, Alireza S Keshtgar
AIMS: Hirschsprung disease (HD) is a chronic condition associated with long-term morbidity. We assessed the short and long-term functional outcomes of operated patients in a single institution over a 12-year period. MATERIALS AND METHODS: We conducted a retrospective review of all children operated for HD between 2002 and 2014. Postoperative functional outcomes were assessed using the Rintala Bowel Function Score (BFS, 0-20, 20=best score). We assessed hospital admissions, complications including Hirschsprung associated enterocolitis (HAEC) and the need for further surgical procedures...
November 14, 2016: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/27911079/trans-acting-epigenetic-effects-of-chromosomal-aneuploidies-lessons-from-down-syndrome-and-mouse-models
#4
Catherine Do, Zhuo Xing, Y Eugene Yu, Benjamin Tycko
An important line of postgenomic research seeks to understand how genetic factors can influence epigenetic patterning. Here we review epigenetic effects of chromosomal aneuploidies, focusing on findings in Down syndrome (DS, trisomy 21). Recent work in human DS and mouse models has shown that the extra chromosome 21 acts in trans to produce epigenetic changes, including differential CpG methylation (DS-DM), in specific sets of downstream target genes, mostly on other chromosomes. Mechanistic hypotheses emerging from these data include roles of chromosome 21-linked methylation pathway genes (DNMT3L and others) and transcription factor genes (RUNX1, OLIG2, GABPA, ERG and ETS2) in shaping the patterns of DS-DM...
December 2, 2016: Epigenomics
https://www.readbyqxmd.com/read/27907018/pregnancy-outcome-following-prenatal-diagnosis-of-chromosomal-anomaly-a-record-linkage-study-of-26-261-pregnancies
#5
Myrthe Jacobs, Sally-Ann Cooper, Ruth McGowan, Scott M Nelson, Jill P Pell
Previous studies have demonstrated the influence of changes in the age at which women give birth, and of developments in prenatal screening and diagnosis on the number of pregnancies diagnosed and terminated with chromosomal anomalies. However, we are unaware of any population studies examining pregnancy terminations after diagnosis of chromosomal anomalies that has included all aneuploidies and the influence of maternal factors. The aims of this study were to examine the association between results of prenatal tests and pregnancy termination, and the proportion of foetuses with and without chromosomal anomalies referred for invasive diagnostic tests over time...
2016: PloS One
https://www.readbyqxmd.com/read/27900408/prevalence-and-risk-factors-for-pericardial-effusions-requiring-readmission-after-pediatric-cardiac-surgery
#6
Matthew D Elias, Andrew C Glatz, Matthew J O'Connor, Susan Schachtner, Chitra Ravishankar, Christoper E Mascio, Meryl S Cohen
Pericardial effusion (PE) may require readmission after cardiac surgery and has been associated with postoperative morbidity and mortality. We sought to identify the prevalence and risk factors for postoperative PE requiring readmission in children. A retrospective analysis of the Pediatric Health Information System database was performed between January 1, 2003, and September 30, 2014. All patients ≤18 years old who underwent cardiac surgery were identified by ICD-9 codes. Those readmitted within 1 year with an ICD-9 code for PE were identified...
November 30, 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27899089/familial-forms-of-disorders-of-sex-development-may-be-common-if-infertility-is-considered-a-comorbidity
#7
Raja Brauner, Flavia Picard-Dieval, Henri Lottmann, Sébastien Rouget, Joelle Bignon-Topalovic, Anu Bashamboo, Ken McElreavey
BACKGROUND: Families with 46,XY Disorders of Sex Development (DSD) have been reported, but they are considered to be exceptionally rare, with the exception of the familial forms of disorders affecting androgen synthesis or action. The families of some patients with anorchia may include individuals with 46,XY gonadal dysgenesis. We therefore analysed a large series of patients with 46,XY DSD or anorchia for the occurrence in their family of one of these phenotypes and/or ovarian insufficiency and/or infertility and/or cryptorchidism...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27896246/quantitative-fluorescent-polymerase-chain-reaction-for-rapid-prenatal-diagnosis-of-fetal-aneuploidies-in-chorionic-villus-sampling-in-a-single-institution
#8
You Jung Shin, Jin Hoon Chung, Do Jin Kim, Hyun Mee Ryu, Moon Young Kim, Jung Yeol Han, June Seek Choi
OBJECTIVE: To validate quantitative fluorescent polymerase chain reaction (QF-PCR) via chorionic villus sampling (CVS) for the diagnosis of fetal aneuploidies. METHODS: We retrospectively reviewed the medical records of consecutive pregnant women who had undergone CVS at Cheil General Hospital between December 2009 and June 2014. Only cases with reported QF-PCR before long-term culture (LTC) for conventional cytogenetic analysis were included, and the results of these two methods were compared...
November 2016: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/27889224/fetal-megacystis-a-systematic-review
#9
REVIEW
K Taghavi, C Sharpe, M D Stringer
: Fetal megacystis is variably defined and understood. The literature on fetal megacystis was systematically reviewed, focusing on prenatal diagnosis, associations and outcomes. This yielded a total of 18 primary references and eight secondary references. Fetal megacystis has an estimated first-trimester prevalence of between 1:330 and 1:1670, with a male to female ratio of 8:1. In the first trimester, megacystis is most commonly defined as a longitudinal bladder dimension of ≥7 mm...
October 8, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27888703/the-association-between-prenatal-atrioventricular-septal-defects-and-chromosomal-abnormalities
#10
Maddalena Morlando, Amarnath Bhide, Alessandra Familiari, Asma Khalil, José Morales-Roselló, Aris T Papageorghiou, Julene S Carvalho
OBJECTIVE: Atrioventricular septal defect is associated with a high risk of a chromosomal abnormality, particularly trisomy 21. The aim of this study is to assess the rate of trisomy 21 in fetuses diagnosed with an atrioventricular septal defect and to examine the influence of prior screening on the rate of trisomy 21. METHODS: Electronic ultrasound database was searched to identify fetuses diagnoses with an atrioventricular septal defect from 2002 to 2014. Rate of trisomy 21 and other aneuploidies was calculated among fetuses with normal situs...
October 29, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/27873105/newborn-screening-for-severe-primary-immunodeficiency-diseases-in-sweden-a-2-year-pilot-trec-and-krec-screening-study
#11
Michela Barbaro, Annika Ohlsson, Stephan Borte, Susanne Jonsson, Rolf H Zetterström, Jovanka King, Jacek Winiarski, Ulrika von Döbeln, Lennart Hammarström
Newborn screening for severe primary immunodeficiencies (PID), characterized by T and/or B cell lymphopenia, was carried out in a pilot program in the Stockholm County, Sweden, over a 2-year period, encompassing 58,834 children. T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) were measured simultaneously using a quantitative PCR-based method on DNA extracted from dried blood spots (DBS), with beta-actin serving as a quality control for DNA quantity. Diagnostic cutoff levels enabling identification of newborns with milder and reversible T and/or B cell lymphopenia were also evaluated...
November 21, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27870946/conserved-hierarchical-gain-of-chromosome-4-is-an-independent-prognostic-factor-in-high-hyperdiploid-pediatric-acute-lymphoblastic-leukemia
#12
Á Vojcek, G Pajor, D Alpár, R Mátics, L Pótó, K Szuhai, L Pajor
BACKGROUND: High hyperdiploid (HeH) pre-B pediatric acute lymphoblastic leukemia (B-pALL) is known to be heterogeneous by prognosis, but the stratification principals according to conventional cytogenetic analysis (CCA) are equivocal. PROCEDURE: Untreated bone marrow samples of 214 B-pALL patients were previously classified according to the modal numbers (iMN8) based on the gains of the chromosomes 4, 6, 10, 14, 17, 18, 21, and X as revealed by consecutive and correlated 2×4 color interphase fluorescence in situ hybridization, and at least five years of follow up data were analyzed...
November 11, 2016: Leukemia Research
https://www.readbyqxmd.com/read/27867340/changing-paradigms-in-down-syndrome-the-first-international-conference-of-the-trisomy-21-research-society
#13
Jean-Maurice Delabar, Bernadette Allinquant, Diana Bianchi, Tom Blumenthal, Alain Dekker, Jamie Edgin, John O'Bryan, Mara Dierssen, Marie-Claude Potier, Frances Wiseman, Faycal Guedj, Nicole Créau, Roger Reeves, Katheleen Gardiner, Jorge Busciglio
Down syndrome (DS) is the most common genetic cause of intellectual disability (ID) in humans with an incidence of ∼1:1,000 live births worldwide. It is caused by the presence of an extra copy of all or a segment of the long arm of human chromosome 21 (trisomy 21). People with DS present with a constellation of phenotypic alterations involving most organs and organ systems. ID is present in all people with DS, albeit with variable severity. DS is also the most frequent genetic cause of Alzheimer's disease (AD), and ∼50% of those with DS will develop AD-related dementia...
October 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27859447/the-co-occurrence-of-down-syndrome-and-autism-spectrum-disorder-is-it-because-of-additional-genetic-variations
#14
Angela L Rachubinski, Susan Hepburn, Ellen R Elias, Katheleen Gardiner, Tamim H Shaikh
Individuals with Down syndrome (DS) are diagnosed with autism spectrum disorder (ASD) at a significantly higher frequency than the typical population. The differentiation of ASD symptoms from those of severe intellectual disability presents diagnostic challenges, which have led to more refined methods in the clinical evaluation of ASD in DS. These improved phenotypic characterization methods not only provide better diagnosis of ASD in DS, but may also be useful in elucidating the etiology of the increased prevalence of ASD in DS...
November 17, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27858187/duodeno-duodenostomy-or-duodeno-jejunostomy-for-duodenal-atresia-is-one-repair-better-than-the-other
#15
Augusto Zani, Jung-Pin Benjamin Yeh, Sebastian K King, Priscilla P L Chiu, Paul W Wales
PURPOSE: The surgical management of neonates with duodenal atresia (DA) involves re-establishment of intestinal continuity, either by duodeno-duodenostomy (DD) or by duodeno-jejunostomy (DJ). Although the majority of pediatric surgeons perform DD repair preferentially, we aimed to analyze the outcome of DA neonates treated with either surgical technique. METHODS: Following ethical approval (REB:1000047737), we retrospectively reviewed the charts of all patients who underwent DA repair between 2004 and 2014...
November 17, 2016: Pediatric Surgery International
https://www.readbyqxmd.com/read/27855394/prenasal-thickness-prefrontal-space-ratio-and-other-facial-profile-markers-in-first-trimester-fetuses-with-aneuploidies-cleft-palate-and-micrognathia
#16
Merel Bakker, Margherita Pace, Els de Jong-Pleij, Erwin Birnie, Karl-Oliver Kagan, Caterina M Bilardo
OBJECTIVE: To investigate the feasibility and reproducibility of the prenasal thickness (PNT)/nasal bone length (NBL) ratio, maxilla-nasion-mandible (MNM) angle, facial profile line, profile line distance, and prefrontal space ratio (PFSR) in the first trimester of pregnancy, develop normal ranges, and evaluate these markers in abnormal fetuses. METHODS: All measurements were performed on stored images by two operators. Feasibility, interoperator agreement, and prediction intervals were calculated for all measurements...
November 18, 2016: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/27852141/a-polymorphism-rs1042522-intp53-gene-is-a-risk-factor-for-down-syndrome-in-sicilian-mothers
#17
Michele Salemi, Concetta Barone, Maria Grazia Salluzzo, Mariaconcetta Giambirtone, Francesco Scillato, Rosanna Galati Rando, Carmelo Romano, Maria Concetta Morale, Federico Ridolfo, Corrado Romano
OBJECTIVE: Trisomy 21 is the most frequent genetic cause of intellectual disability. TP53 gene down-regulation triggers chromosomal instability. A TP53 gene polymorphism c.215G > C (rs1042522) is associated with accumulation of aneuploid cells. We analyzed the TP53 c.215G > C (rs1042522) polymorphism in Sicilian mothers of subjects with Down Syndrome (DS) within a case-control study. METHODS: Nucleotide polymorphism was detected by pyrosequencing technology...
November 16, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27847281/identification-of-pediatric-patients-with-celiac-disease-based-on-serology-and-a-classification-and-regression-tree-analysis
#18
Anna Ermarth, Matthew Bryce, Stephanie Woodward, Gregory Stoddard, Linda Book, M Kyle Jensen
BACKGROUND & AIMS: Celiac disease is detected using serology and endoscopy analyses. We used multiple statistical analyses of a geographically isolated population in the United States to determine whether a single serum screening can identify individuals with celiac disease. METHODS: We performed a retrospective study of 3555 pediatric patients (18 years old or younger) in the intermountain West region of the United States from January 1, 2008 through September 30, 2013...
November 12, 2016: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/27842993/diagnosis-and-clinical-management-of-embryonic-mosaicism
#19
REVIEW
Nidhee M Sachdev, Susan M Maxwell, Andria G Besser, James A Grifo
Embryonic mosaicism occurs when two or more cell populations with different genotypes are present within the same embryo. New diagnostic techniques for preimplantation genetic screening (PGS), such as next-generation sequencing, have led to increased reporting of mosaicism. The interpretation of mosaicism is complicated because the transfer of some mosaic embryos has resulted in live births. Mosaic embryos may represent a third category between normal (euploidy) and abnormal (aneuploidy). This category of mosaic embryos may be characterized by decreased implantation and pregnancy potential as well as increased risk of genetic abnormalities and adverse pregnancy outcomes...
November 11, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27812158/maternal-age-specific-rates-for-trisomy-21-and-common-autosomal-trisomies-in-fetuses-from-a-single-diagnostic-center-in-thailand
#20
Kanoot Jaruthamsophon, Hutcha Sriplung, Chariyawan Charalsawadi, Pornprot Limprasert
To provide maternal age-specific rates for trisomy 21 (T21) and common autosomal trisomies (including trisomies 21, 18 and 13) in fetuses. We retrospectively reviewed prenatal cytogenetic results obtained between 1990 and 2009 in Songklanagarind Hospital, a university teaching hospital, in southern Thailand. Maternal age-specific rates of T21 and common autosomal trisomies were established using different regression models, from which only the fittest models were used for the study. A total of 17,819 records were included in the statistical analysis...
2016: PloS One
keyword
keyword
16029
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"