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M M Gil, M Brik, C Casanova, R Martin-Alonso, M Verdejo, E Ramírez, B Santacruz
OBJECTIVE: To describe our experience in first-trimester screening for trisomies 21 and 18 firstly by the combined test alone and secondly by cell-free (cf)DNA testing contingent on the results from a previously performed combined test. METHODS: Women with singleton pregnancies attending Torrejon University Hospital in Madrid, Spain, from November 2011 to January 2016, were screened for trisomy (T)21 and T18 by the combined test at 11-13 weeks. Before the introduction of cfDNA testing, women at high risk (>1 in 250) were offered invasive testing (IT) and from January 2015 they were offered cfDNA test as well as IT...
November 2, 2016: Journal of Maternal-fetal & Neonatal Medicine
Mary E Norton, Miriam Kuppermann
Providing reliable prenatal screening performance estimates is critical for patient counseling and policy-making. Women who choose prenatal screening for aneuploidy are likely to be concerned not only with the common aneuploidies but with all causes of intellectual disability and serious birth defects. Sequential prenatal screening (combined serum and ultrasound testing) for aneuploidy detection commonly is offered as a primary screening test. Among women identified as screen positive, cell-free (cf)DNA has been added recently as a secondary, noninvasive screening option, before the consideration of invasive diagnostic testing (eg, amniocentesis and karyotype)...
November 2016: American Journal of Obstetrics and Gynecology
Glenn E Palomaki, Geralyn M Lambert-Messerlian, James E Haddow
Providing reliable prenatal screening performance estimates is critical for patient counseling and policy-making. Women who choose prenatal screening for aneuploidy are likely to be concerned not only with the common aneuploidies but with all causes of intellectual disability and serious birth defects. Sequential prenatal screening (combined serum and ultrasound testing) for aneuploidy detection commonly is offered as a primary screening test. Among women identified as screen positive, cell-free (cf)DNA has been added recently as a secondary, noninvasive screening option, before the consideration of invasive diagnostic testing (eg, amniocentesis and karyotype)...
November 2016: American Journal of Obstetrics and Gynecology
Haruka Nakada, Hiroshi Nakagomi, Yosuke Hirotsu, Kenji Amemiya, Hitoshi Mochizuki, Masayuki Inoue, Toshio Oyama, Masao Omata
Tumor heterogeneity has been suggested based on clinical and pathological findings. Several clinical findings can be explained by tumor evolution during progression and metastasis. We herein report a case of metastatic breast cancer indicated tumor heterogeneity by clinical findings and a genomic analysis. A 64-year-old woman with advanced breast cancer was treated with primary chemotherapy, to which primary tumor responded. After a 6 month treatment pause, lung, liver, and skin metastases developed and her serum tumor markers were elevated...
September 29, 2016: Breast Cancer: the Journal of the Japanese Breast Cancer Society
D M Strah, F Mujezinović
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
Amal Fawzy, Karima M Sweify, Hany M El-Fayoumy, Nagwa Nofal
BACKGROUND: Prostate cancer (PC) is the most common cancer affecting men, it accounts for 29% of all male cancer and 11% of all male cancer related death. DNA is normally released from an apoptotic source which generates small fragments of cell-free DNA, whereas cancer patients have cell-free circulating DNA that originated from necrosis, autophagy, or mitotic catastrophe, which produce large fragments. AIM OF WORK: Differentiate the cell free DNA levels (cfDNA) and its integrity in prostate cancer patients and control group composed of benign prostate hyperplasia (BPH) and healthy persons...
December 2016: Journal of the Egyptian National Cancer Institute
Nathalie Brison, Kris Van Den Bogaert, Luc Dehaspe, Jessica M E van den Oever, Katrien Janssens, Bettina Blaumeiser, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel, Eric Legius, Koen Devriendt, Joris R Vermeesch
PURPOSE: Genome-wide sequencing of cell-free (cf)DNA of pregnant women aims to detect fetal chromosomal imbalances. Because the largest fraction of cfDNA consists of maternal rather than fetal DNA fragments, maternally derived copy-number variants (CNVs) are also measured. Despite their potential clinical relevance, current analyses do not interpret maternal CNVs. Here, we explore the accuracy and clinical value of maternal CNV analysis. METHODS: Noninvasive prenatal testing was performed by whole-genome shotgun sequencing on plasma samples...
September 1, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
P Chaveeva, M Yankova, V Stratieva, I Dimitrov, A Shterev
OBJECTIVE: Clinical implementation of cell free(cf) DNA testing in maternal blood for aneuploidies in singleton pregnancies. METHODS: This is a retrospective study conducted in two centers for fetal medicine in Sofia, Bulgaria, between October 2013 and August 2015. We examined the clinical implementation of cf DNA testing in the routine practice for trisomies 21, 18 and13 after the performance of the first trimester combined test, second trimester biochemical test and/or the combination between first and second trimester integrated test...
2016: Akusherstvo i Ginekologii︠a︡
Tomasz Powrózek, Paweł Krawczyk, Barbara Kuźnar-Kamińska, Halina Batura-Gabryel, Janusz Milanowski
BACKGROUND: Analysis of epigenetic alterations such as methylation of circulating-free DNA (cf-DNA) expression significantly broadened perspectives of lung cancer (LC) screening. Moreover, methylation of tumor suppressor genes may be analyzed with non-invasive manner in patients' blood samples (liquid biopsy), what underline necessity of detailed investigation of tumor cf-DNA. MATERIAL AND METHODS: The purpose of current study was to assess methylation of RTEL1 and PCDHGB6 promoter regions in cf-DNA of 70 LC patients and 80 healthy individuals using qMSP-PCR technique...
August 2016: Experimental Lung Research
Dun Ling Xia, Hong Zhang, Qing Li Luo, A Fang Zhang, Li Xin Zhu
OBJECTIVE: To investigate whether circulating cell-free (cf)-DNA levels are a useful biomarker for survival in patients with shock in the emergency intensive care unit (EICU). METHODS: This prospective observational study enrolled patients admitted to the EICU diagnosed with shock. Blood cf-DNA levels were analysed on admission, and after 24 and 48 h. As a measure of circulating cf-DNA, copy number of the β-globin gene in plasma was assessed using quantitative real-time polymerase chain reaction...
July 7, 2016: Journal of International Medical Research
Ferras Albitar, Wanlong Ma, Kevin Diep, Ivan De Dios, Sally Agersborg, Maya Thangavelu, Steve Brodie, Maher Albitar
BACKGROUND: Demonstrating the presence of myelodysplastic syndrome (MDS)-specific molecular abnormalities can aid in diagnosis and patient management. We explored the potential of using peripheral blood (PB) cell-free DNA (cf-DNA) and next-generation sequencing (NGS). MATERIALS AND METHODS: We performed NGS on a panel of 14 target genes using total nucleic acid extracted from the plasma of 16 patients, all of whom had confirmed diagnoses for early MDS with blasts <5%...
July 2016: Genetic Testing and Molecular Biomarkers
Howard Cuckle
Maternal plasma cell-free (cf) DNA testing has higher discriminatory power for aneuploidy than any conventional multi-marker screening test. Several strategies have been suggested for introducing it into clinical practice. Secondary cfDNA, restricted only to women with positive conventional screening test, is generally cost saving and minimizes the need for invasive prenatal diagnosis but leads to a small loss in detection. Primary cfDNA, replacing conventional screening or retaining the nuchal translucency scan, is not currently cost-effective for third-party payers...
June 2016: Clinics in Laboratory Medicine
Filip Janku, Helen J Huang, Bart Claes, Gerald S Falchook, Siqing Fu, David Hong, Nishma M Ramzanali, Giovanni Nitti, Goran Cabrilo, Apostolia M Tsimberidou, Aung Naing, Sarina A Piha-Paul, Jennifer J Wheler, Daniel D Karp, Veronica R Holley, Ralph G Zinner, Vivek Subbiah, Rajyalakshmi Luthra, Scott Kopetz, Michael J Overman, Bryan K Kee, Sapna Patel, Benoit Devogelaere, Erwin Sablon, Geert Maertens, Gordon B Mills, Razelle Kurzrock, Funda Meric-Bernstam
Cell-free (cf) DNA from plasma offers an easily obtainable material for BRAF mutation analysis for diagnostics and response monitoring. In this study, plasma-derived cfDNA samples from patients with progressing advanced cancers or malignant histiocytosis with known BRAF(V600) status from formalin-fixed paraffin-embedded (FFPE) tumors were tested using a prototype version of the Idylla BRAF Mutation Test, a fully integrated real-time PCR-based test with turnaround time about 90 minutes. Of 160 patients, BRAF(V600) mutations were detected in 62 (39%) archival FFPE tumor samples and 47 (29%) plasma cfDNA samples...
June 2016: Molecular Cancer Therapeutics
Tiina Alapirtti, Juulia Jylhävä, Jani Raitanen, Riikka Mäkinen, Jukka Peltola, Mikko A Hurme, Suvi Liimatainen
OBJECTIVE: Cell-free DNA (cf-DNA) is a marker of inflammation and cell death. The purpose of the present study was to analyze the role of cf-DNA as a putative biomarker in refractory epilepsy. METHODS: Baseline concentration of cf-DNA was measured in the serum of 51 carefully evaluated refractory epilepsy patients undergoing video-EEG monitoring. Epilepsy was classified based on seizure semiology, patient history, and imaging findings. Majority of the patients (47) had focal epilepsy...
January 2016: Neurological Research
L Sarno, R Revello, E Hanson, R Akolekar, K H Nicolaides
OBJECTIVES: First, to examine in twin pregnancies the performance of first-trimester screening for fetal trisomies 21, 18 and 13 by cell-free (cf) DNA testing of maternal blood and, second, to compare twin and singleton pregnancies regarding the distribution of fetal fraction of cfDNA and rate of failure to obtain a result. METHODS: This was a prospective study in 438 twin and 10 698 singleton pregnancies undergoing screening for fetal trisomies by cfDNA testing at 10 + 0 to 13 + 6 weeks' gestation...
June 2016: Ultrasound in Obstetrics & Gynecology
Paula Giselle Czaikoski, José Maurício Segundo Correia Mota, Daniele Carvalho Nascimento, Fabiane Sônego, Fernanda Vargas e Silva Castanheira, Paulo Henrique Melo, Gabriela Trentin Scortegagna, Rangel Leal Silva, Romualdo Barroso-Sousa, Fabrício Oliveira Souto, Antonio Pazin-Filho, Florencio Figueiredo, José Carlos Alves-Filho, Fernando Queiróz Cunha
Organ dysfunction is a major concern in sepsis pathophysiology and contributes to its high mortality rate. Neutrophil extracellular traps (NETs) have been implicated in endothelial damage and take part in the pathogenesis of organ dysfunction in several conditions. NETs also have an important role in counteracting invading microorganisms during infection. The aim of this study was to evaluate systemic NETs formation, their participation in host bacterial clearance and their contribution to organ dysfunction in sepsis...
2016: PloS One
Radwa Marawan AbdelHalim, Dalia Ibrahim Ramadan, Reham Zeyada, Ahmed Soliman Nasr, Iman Atef Mandour
BACKGROUND: The diagnosis of preeclampsia (PE) is based on the measurement of maternal blood pressure and proteinuria; however, these parameters are not used in the prediction of adverse fetal outcomes that may occur due to fetal stress. The plasma concentrations of total cell-free DNA (cf-DNA), cell-free fetal DNA (cff-DNA) and soluble endoglin (sEng) are higher in women with established PE than in normotensive controls, and the increase is particularly marked in those with severe PE...
April 2016: Molecular Diagnosis & Therapy
Xuefeng Shao, Yan He, Min Ji, Xiaofang Chen, Jing Qi, Wei Shi, Tianbo Hao, Shaoqing Ju
The aim of the present study was to investigate the association between cell-free DNA (cf-DNA) levels and clinicopathological characteristics of patients with ovarian cancer using a branched DNA (bDNA) technique, and to determine the value of quantitative cf-DNA detection in assisting with the diagnosis of ovarian cancer. Serum specimens were collected from 36 patients with ovarian cancer on days 1, 3 and 7 following surgery, and additional serum samples were also collected from 22 benign ovarian tumor cases, and 19 healthy, non-cancerous ovaries...
December 2015: Oncology Letters
Claire Tissot, Anne-Claire Toffart, Stéphanie Villar, Pierre-Jean Souquet, Patrick Merle, Denis Moro-Sibilot, Maurice Pérol, Jiri Zavadil, Christian Brambilla, Magali Olivier, Sébastien Couraud
Plasma circulating cell-free (cf)DNA is of interest in oncology because it has been shown to contain tumour DNA and may thus be used as liquid biopsy. In nonsmall cell lung cancer (NSCLC), cfDNA quantification has been proposed for the monitoring and follow-up of patients. However, available studies are limited and need to be confirmed by studies with larger sample sizes and including patients who receive more homogenous treatments. Our objective was to assess the predictive and prognostic value of plasma cfDNA concentration in a large series of patients with NSCLC and treated with a standard chemotherapy regimen...
December 2015: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
Christophe Legendre, Gerald C Gooden, Kyle Johnson, Rae Anne Martinez, Winnie S Liang, Bodour Salhia
BACKGROUND: A number of clinico-pathological criteria and molecular profiles have been used to stratify patients into high- and low-risk groups. Currently, there are still no effective methods to determine which patients harbor micrometastatic disease after standard breast cancer therapy and who will eventually develop local or distant recurrence. The purpose of our study was to identify circulating DNA methylation changes that can be used for prediction of metastatic breast cancer (MBC)...
2015: Clinical Epigenetics
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