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https://www.readbyqxmd.com/read/28526461/-anesthesia-in-a-child-operated-for-cleft-lip-associated-with-patau-s-syndrome
#1
Manoj Kamal, Don Varghese, Jeet Bhagde, Geeta Singariya, Annie Miju Simon, Amar Singh
Patients with Patau's syndrome (Trisomy 13) have multiple craniofacial, cardiac, neurological and renal anomalies with very less life expectancy. Among craniofacial anomalies cleft lip and palate are common. These craniofacial and cardiac anomalies present difficulties with anesthesia. We therefore describe the anesthetic management in the case of a Trisomy 13 child for operated for cleft lip at 10 months of age.
May 16, 2017: Revista Brasileira de Anestesiologia
https://www.readbyqxmd.com/read/28521466/extranodal-marginal-zone-lymphoma-of-the-uterine-cervix-with-concomitant-copy-number-gains-of-the-malt1-and-bcl2-genes-a-case-report
#2
Tomoko Takimoto, Saori Maegawa, Hiroshi Tatsumi, Hisao Nagoshi, Yoshiaki Chinen, Yuji Shimura, Tsutomu Kobayashi, Shigeo Horiike, Shigeo Nakamura, Jo Kitawaki, Junya Kuroda, Masafumi Taniwaki
Extranodal marginal zone lymphoma (EMZL) of mucosa-associated lymphoid tissue (MALT) of the uterus is rare, and the etiology, pathophysiology and cytogenetic features remain unknown at present. The present study reports a case of a 71-year-old female with EMZL of the uterine cervix that was 80 mm in diameter and invaded directly into the rectal serosa. Complete remission was successfully induced by 6 courses of immunochemotherapy with rituximab plus cyclophosphamide, doxorubicin, vincristine and prednisolone...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28518169/population-based-impact-of-noninvasive-prenatal-screening-on-screening-and-diagnostic-testing-for-fetal-aneuploidy
#3
Lisa Hui, Briohny Hutchinson, Alice Poulton, Jane Halliday
PurposeTo assess the population-wide impact of noninvasive prenatal screening (NIPS) on combined first-trimester screening (CFTS), early ultrasound (11-13 weeks), and invasive prenatal diagnosis in a state with over 73,000 births per year.MethodsAnalysis of population-based data from 2000 to 2015 including (i) invasive prenatal tests, (ii) CFTS uptake, and (iii) total births. Utilization of early ultrasound was analyzed before and after NIPS (2010-2015).ResultsInvasive testing decreased significantly by 39...
May 18, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28516087/dna-sequence-analysis-in-clinical-medicine-proceeding-cautiously
#4
REVIEW
Moyra Smith
Delineation of underlying genomic and genetic factors in a specific disease may be valuable in establishing a definitive diagnosis and may guide patient management and counseling. In addition, genetic information may be useful in identification of at risk family members. Gene mapping and initial genome sequencing data enabled the development of microarrays to analyze genomic variants. The goal of this review is to consider different generations of sequencing techniques and their application to exome sequencing and whole genome sequencing and their clinical applications...
2017: Frontiers in Molecular Biosciences
https://www.readbyqxmd.com/read/28515796/genetic-heterogeneity-of-patients-with-suspected-silver-russell-syndrome-genome-wide-copy-number-analysis-in-82-patients-without-imprinting-defects
#5
Takanobu Inoue, Akie Nakamura, Tomoko Fuke, Kazuki Yamazawa, Shinichiro Sano, Keiko Matsubara, Seiji Mizuno, Yoshika Matsukura, Chie Harashima, Tatsuji Hasegawa, Hisakazu Nakajima, Kumi Tsumura, Zenro Kizaki, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami
BACKGROUND: Silver-Russell syndrome (SRS) is a rare congenital disorder characterized by pre- and postnatal growth failure and dysmorphic features. Recently, pathogenic copy number variations (PCNVs) and imprinting defects other than hypomethylation of the H19-differentially methylated region (DMR) and maternal uniparental disomy chromosome 7 have been reported in patients with the SRS phenotype. This study aimed to clarify the frequency and clinical features of patients with SRS phenotype caused by PCNVs...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28515587/fetal-intra-abdominal-umbilical-vein-varix-case-series-and-review-of-literature
#6
Meenakshi Lallar, Shubha R Phadke
Fetal intraabdominal umbilical vein varix (FIUV) is focal dilatation of the intrabdominalumbilical vein of thefetus. It appears as a round or fusiform cystic structure in thefetal abdomen, which shows continuity with the umbilical vein ongrayscale andcolor Dopplerimaging. The diagnostic criteria include the FIUV varix diameter at least 50% wider than the diameter of the intrahepatic umbilical veinand an intraabdominal umbilical vein diameter exceeding 9 mm orgreater than twostandard deviations above the mean for gestational age...
January 2017: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/28514881/trisomy-13-and-the-risk-of-gestational-hypertensive-disorders-a-population-based-study
#7
Sarah K Dotters-Katz, Whitney M Humphrey, Kayli L Senz, Vanessa R Lee, Brian L Shaffer, Jeffrey A Kuller, Aaron B Caughey
PURPOSE: To describe the rate and severity of gestational hypertensive disorders (GHD) in pregnancies complicated by trisomy 13 (T13). MATERIALS AND METHODS: Retrospective cohort study of singleton deliveries in California from 2005-2008 using vital statistics and ICD-9 data. We were interested in gestational hypertension (gHTN), preeclampsia with and without severe features (sPREX and PREX), and gestational age at delivery. Pregnancies and maternal complications affected by prenatally diagnosed T13 were compared to unaffected pregnancies...
May 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28514780/two-distinct-bcl2-rearrangements-each-observed-in-2-independent-subclones-evolving-from-a-founder-clone-with-trisomy-12-in-a-unique-case-of-chronic-lymphocytic-leukemia-small-lymphocytic-lymphoma
#8
https://www.readbyqxmd.com/read/28511174/noninvasive-prenatal-detection-of-trisomy-21-by-targeted-semiconductor-sequencing-a-technical-feasibility-study
#9
Yanwei Xi, Aryan Arbabi, Amy J M McNaughton, Alison Hamilton, Danna Hull, Helene Perras, Tillie Chiu, Shawna Morrison, Claire Goldsmith, Emilie Creede, Gregory J Anger, Christina Honeywell, Mireille Cloutier, Natasha Macchio, Courtney Kiss, Xudong Liu, Susan Crocker, Gregory A Davies, Michael Brudno, Christine M Armour
OBJECTIVE: To develop an alternate noninvasive prenatal testing method for the assessment of trisomy 21 (T21) using a targeted semiconductor sequencing approach. METHODS: A customized AmpliSeq panel was designed with 1,067 primer pairs targeting specific regions on chromosomes 21, 18, 13, and others. A total of 235 samples, including 30 affected with T21, were sequenced with an Ion Torrent Proton sequencer, and a method was developed for assessing the probability of fetal aneuploidy via derivation of a risk score...
May 17, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28511170/mosaic-trisomy-9p-in-a-patient-with-mild-dysmorphic-features-and-normal-intelligence
#10
Randeep Brar, Donald G Basel, David P Bick, LuAnn Weik, Peter vanTuinen, Jess F Peterson
To the Editor: Partial and whole duplications of the short arm of chromosome 9 have been commonly reported in the literature with characteristic phenotypic features and intellectual disabilities. The clinical features of 9p duplications are broad and can include growth retardation, developmental delay, intellectual disability, microbrachycephaly, deep set eyes, hypertelorism, downslanting palpebral fissures, prominent nasal root, bulbous nasal tip, low-set ears, short fingers and toes with hypoplastic nails, and delayed bone age (Bonaglia et al...
2017: Journal of the Association of Genetic Technologists
https://www.readbyqxmd.com/read/28510070/sonographic-detection-of-open-spina-bifida-in-the-first-trimester-review-of-the-literature
#11
César Meller, Horacio Aiello, Lucas Otaño
In the beginnings, sonographic diagnosis of open spina bifida (OSB) relied on the meticulous scanning of the fetal vertebrae for abnormalities but many defects were missed. After the mid-1980s, however, with the description of the intracranial findings in the second trimester (the "lemon sign" and the "banana sign"), the prenatal diagnosis of OSB was enhanced. In the last 2 decades, there has been widespread uptake of routine ultrasound examination in the first trimester of pregnancy with the purpose of the measurement of fetal crown-rump length to determine gestational age, to screen for trisomy 21 and other aneuploidies, mainly with the nuchal translucency, and for diagnosis of many major abnormalities...
May 16, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28509132/transient-fanconi-syndrome-in-two-preterm-infants-with-hydronephrosis-and-urinary-tract-infection
#12
Takahiro Tominaga, Takeshi Sato, Yosuke Ichihashi, Naoko Amano, Yasuaki Kobayashi, Midori Awazu
Type IV renal tubular acidosis is known to occur in obstructive uropathy with urinary tract infection. Fanconi syndrome, however, has not been described in these settings. We report two preterm infants who developed Fanconi syndrome associated with hydronephrosis and urinary tract infection. Patient 1 is a boy with 21 trisomy, bilateral renal hypoplasia and bilateral vesicoureteral reflux delivered at 35 weeks' gestation. At postnatal day 42, he developed Fanconi syndrome after urinary tract infection, which persisted until the surgical correction of vesicoureteral reflux...
May 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28504507/-mosaic-trisomy-18-series-of-cases
#13
Francisco Cammarata-Scalisi, María A Lacruz-Rengel, Dianora Araque, Gloria Da Silva, Andrea Avendaño, Michele Callea, Frances Stock, Yudith Guerrero, Eliomar Aguilar, María J Lacruz, Jesús Sulbaran
Trisomy 18 syndrome (T18) is a clinical and genetic disorder, which has a full extra chromosome 18 in each cell, variant that is called free trisomy. In addition, it can occur in partial and mosaic form. It is characterized by intrauterine growth restriction, psychomotor and mental retardation, characteristic craniofacial findings, congenital heart disease, hypoplastic pelvis, clenched hand and rocker-bottom foot, among others. The mosaic T18 occurs when cells with T18 and normal cell lines exist in the same individual and correspond to 5% of cases...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28502197/effect-of-maternal-age-on-spontaneous-abortion-during-the-first-trimester-in-northeast-china
#14
Rulin Dai, Linlin Li, Haibo Zhu, Dongfeng Geng, Shu Deng, Ruizhi Liu
OBJECTIVE: We aimed to determine the relationship between fetal chromosomal abnormalities and maternal age among spontaneous first trimester abortions in women in Northeast China. METHODS: We evaluated 497 chorionic villi samples from patients with a history of spontaneous abortion during the first trimester. We divided the samples into five groups according to maternal age: <25, 25-29, 30-34, 35-39, and ≥40 years. We identified chromosomal abnormalities by fluorescence in situ hybridization...
May 14, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28500333/novel-algorithms-for-improved-sensitivity-in-non-invasive-prenatal-testing
#15
L F Johansson, E N de Boer, H A de Weerd, F van Dijk, M G Elferink, G H Schuring-Blom, R F Suijkerbuijk, R J Sinke, G J Te Meerman, R H Sijmons, M A Swertz, B Sikkema-Raddatz
Non-invasive prenatal testing (NIPT) of cell-free DNA in maternal plasma, which is a mixture of maternal DNA and a low percentage of fetal DNA, can detect fetal aneuploidies using massively parallel sequencing. Because of the low percentage of fetal DNA, methods with high sensitivity and precision are required. However, sequencing variation lowers sensitivity and hampers detection of trisomy samples. Therefore, we have developed three algorithms to improve sensitivity and specificity: the chi-squared-based variation reduction (χ(2)VR), the regression-based Z-score (RBZ) and the Match QC score...
May 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28499441/chromosomal-abnormalities-subgroup-analysis-by-maternal-age-and-perinatal-features-in-zhejiang-province-of-china-2011-2015
#16
Xiao-Hui Zhang, Li-Qian Qiu, Ying-Hui Ye, Jian Xu
BACKGROUND: Recently, the prevalence of chromosomal abnormalities (CA) increased as the increasing proportion of mothers with advanced age. We aimed to explore the prevalence of CA in relation to maternal age and perinatal features. METHODS: A retrospective study was performed based on provincial birth defects surveillance data. The relative risk (RR) and 95% confidence interval (CI) were used to calculate maternal age-specific rates of CA. Socio-demographic characteristics of mothers and perinatal features were listed...
May 12, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28497584/recommended-practice-for-laboratory-reporting-of-non-invasive-prenatal-testing-nipt-of-trisomies-13-18-and-21-a-consensus-opinion
#17
Zandra C Deans, Stephanie Allen, Lucy Jenkins, Farrah Khawaja, Ros J Hastings, Kathy Mann, Simon J Patton, Erik A Sistermans, Lyn S Chitty
OBJECTIVE: NIPT for trisomies 13, 18, and 21 is used worldwide. Laboratory reports should provide clear, concise results with test limitations indicated, yet no national or local guidelines are currently available. Here we aim to present minimum best practice guidelines. METHODS: All laboratories registered in the three European quality assurance (EQA) schemes for molecular and cytogenetics were invited to complete an online survey focused on services provided for NIPT and non-invasive prenatal diagnosis (NIPD)...
May 12, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28493464/first-trimester-ultrasound-screening-for-trisomy-21-based-on-maternal-age-fetal-nuchal-translucency-and-different-methods-of-ductus-venosus-assessment
#18
Philipp Wagner, Jiri Sonek, Jessika Klein, Markus Hoopmann, Harald Abele, Karl Oliver Kagan
OBJECTIVE: To examine whether combining the dichotomous assessment of the a-wave and the Ductus venosus (DV) PIV measurement improves first-trimester-screening performance. METHODS: Retrospective study performed at the University Hospital of Tuebingen based on singleton pregnancies that underwent first-trimester-screening including DV flow assessment. In each case, the risk of trisomy 21 was calculated based on maternal age, fetal NT, and DV flow either as dichotomous classification of the a-wave, as measurement of the DV PIV, or both...
May 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28493447/the-outcomes-and-prognostic-factors-of-fetal-hydrothorax-associated-with-trisomy-21
#19
Yasuo Yumoto, Seung Chik Jwa, Seiji Wada, Yuichiro Takahashi, Keisuke Ishii, Kiyoko Kato, Noriaki Usui, Haruhiko Sago
OBJECTIVES: To determine the characteristics, outcomes and prognostic factors of fetal hydrothorax (FHT) with trisomy 21. METHODS: A nationwide survey was conducted on FHT fetuses with trisomy 21 delivered after 22 weeks' gestation between January 2007 and December 2011 at perinatal centers. RESULTS: The 91 cases of FHT with trisomy 21 included 28 (30.8%) diagnosed in utero and 63 (69.2%) diagnosed after birth. The natural remission rate was 6...
May 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28488311/left-ventricular-noncompaction-cardiomyopathy-in-a-patient-with-trisomy-13-a-report-and-review-of-the-literature
#20
Anri Hayashi, Tomohiro Kumada, Fumihito Nozaki, Ikuko Hiejima, Minoru Shibata, Takashi Kusunoki, Tatsuya Fujii
Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by prominent trabecular meshwork, and it is thought to result from arrest of the normal compaction process during embryogenesis. Patients with LVNC may be asymptomatic or have symptoms ranging from heart failure to stroke, life-threatening arrhythmias, or sudden death. The frequency of LVNC in children has increased with longer clinical courses. About 80% of patients with trisomy 13 have a congenital cardiac abnormality, but a clinical description of LVNC with trisomy 13 is lacking because of its poor prognosis and lack of awareness about LVNC...
May 9, 2017: American Journal of Medical Genetics. Part A
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