31 research outputs found
Cell-free Fetal Nucleic Acid Identifier Markers in Maternal Circulation
No full textFrom the discovery of cell-free fetal (cff)-DNA in 1997 so far, many studies have been performed on various aspects of cff-nucleic acid. It is undoubted that currently, invasive prenatal diagnosis progresses to the noninvasive test. However, there are many problems. One of the most challenging issues in this field is differentiation and detection of the small amount of cff-nucleic acid in maternal plasma. Many markers and methods have been used for this purpose. This review makes an attempt to review and compare the studies in the field. Six identifier markers including Y-specific sequence, polymorphisms, epigenetic difference, DNA size difference, fetal mRNA, and microRNA as well as the advantages and disadvantages of each marker are discussed. This review provides a relatively perfect set on cff-nucleic acid biomarkers in various physiological and pathological status of pregnancy, helping to review and compare the prior obtained results, and improving designation in future studies
Assessment of high resolution melt analysis feasibility for evaluation of beta-globin gene mutations as a reproducible, cost-efficient and fast alternative to the present conventional method
No full textBackground: Beta-thalassemia is the most prevalent monogenic disease throughout the world. It was the first genetic disorder nominated for nation-wide prevention programs involving population screening for heterozygotes and prenatal diagnosis (PND) in Iran. Due to the high prevalence of beta-thalassemia, the shift from conventional mutation detection methods to more recently developed techniques based on novel innovative technologies are essential. We aimed to develop a real-time polymerase chain reaction (PCR) based protocol using high resolution melting (HRM) analysis for diagnosis of common beta-thalassemia mutations.
Materials and Methods: Forty DNA samples extracted from peripheral blood of suspected beta-thalassemia carriers participated in this study were subjected to amplification refractory mutation system (ARMS). We then used 20 of these samples for HRM optimization. When 100% sensitivity and specificity was obtained with HRM procedure, we applied the technique for mutation detection on another remaining 20 samples as thalassemia cases with unknown mutations (detected mutations with ARMS-PCR kept confidential). Finally, the HRM procedure applied on 2 chorionic villous sample (CVS) biopsied from 12 weeks gestational age pregnant women for routine PND analysis.
Results: In the first step of study, Fr 8/9 (+G), IVSI-1 (G > A), IVSI-5 (G > C), IVSI-110 (G > A), and CD44 (−C) mutations were diagnosed in samples under study using ARMS-PCR technique. Finally, the HRM procedure applied on 20 unknown samples and 2 CVS The results of HRM were in complete concordance with ARMS and confirmed by sequencing.
Conclusions: The advantages of HRM analysis over conventional methods is high throughput, rapid, accurate, cost-effective, and reproducible
Culture driven co-creation: Guidelines for Super Moderators in U_CODE project
No full textThe U_CODE (Urban Collective Design Environment) project started to create an environment for urban co-creation with citizen. To achieve this, U_CODE has designed and developed a new kind of participatory platform for different European countries. To have an effective co-creation session, U_CODE facilitators need to have a good knowledge and understanding of different culture and values that can affect the co-creation sessions. The purpose of this project is to design guidelines for Super Moderators (SuMo) in U_CODE project to facilitate the co-creation sessions in the Netherlands, Germany, and France. First, I reviewed the literature to find the cultural differences in three countries based on available cultural dimensions models. Then, I made a blueprint for co-creation sessions using U_CODE documents and interview I had with U_CODE specialist. Adding the cultural differences to the blueprint, I made guidelines for each of three countries, which was validated by professional facilitators. Then, I ideated some concepts to find the most effective interaction between the guidelines and facilitators. I tested the concepts with interaction designers who had an experience in facilitating co-creation sessions. Based on the feedbacks and the company’s priority, I designed an app for the guidelines. Finally, I evaluated the final design with a culture professional, an international facilitator and a corporate facilitator. This report is concluded with a discussion and a list of limitations and recommendations for this project.Design for Interactio
Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report
No full textBackground
Desbuquois dysplasia type 2 (DBQD2) is an infrequent dysplasia with a wide range of symptoms, including facial deformities, growth retardation and short long bones. It is an autosomal recessive disorder caused by mutations in the XYLT1 gene that encodes xylosyltransferase-1.
Case presentation
We studied an aborted fetus from Iranian non-consanguineous parents who was therapeutically aborted at 19 weeks of gestation. Ultrasound examinations at 18 weeks of gestation revealed growth retardation in her long bones and some facial problems. Whole-exome sequencing was performed on the aborted fetus which revealed compound heterozygous XYLT1 mutations: c.742G>A; p.(Glu248Lys) and c.1537 C>A; p.(Leu513Met). Sanger sequencing and segregation analysis confirmed the compound heterozygosity of these variants in XYLT1.
Conclusion
The c.1537 C>A; p.(Leu513Met) variant has not been reported in any databases so far and therefore is novel. This is the third compound heterozygote report in XYLT1 and further supports the high heterogeneity of this disease
Additional file 1 of Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report
No full textAdditional file 1
Prediction of blast-induced vibrations in limestone quarries using Support Vector Machine
No full textOne of the major environmental concerns related to blasting operation in mining and civil engineering projects is ground vibration. The ground parameters should be taken into account by the prediction models, especially if the ground conditions have variable characters. In a blasting environment, this is usually possible by using an empirical method. However, in this study, the application of a novel artificial method, called a 'Support Vector Machine' (SVM), has been offered for the prediction of blast-induced ground vibration by taking into consideration the maximum charge per delay and the distance between the blast face and monitoring point. Two limestone quarries have been studied through this research. The results clearly show that the SVM can be used as a reliable predictor technique to predict the vibration level with a correlation coefficient of 0.944 which has been obtained by comparing measured and predicted values. © The Author(s) 2011 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav
Author Correction: Mapping local patterns of childhood overweight and wasting in low- and middle-income countries between 2000 and 2017 (Nature Medicine, (2020), 26, 5, (750-759), 10.1038/s41591-020-0807-6)
No full textAn amendment to this paper has been published and can be accessed via a link at the top of the paper. © 2020, The Author(s)
Author Correction: Mapping local patterns of childhood overweight and wasting in low- and middle-income countries between 2000 and 2017 (Nature Medicine, (2020), 26, 5, (750-759), 10.1038/s41591-020-0807-6)
No full textAn amendment to this paper has been published and can be accessed via a link at the top of the paper. © 2020, The Author(s)
Author Correction: Mapping local patterns of childhood overweight and wasting in low- and middle-income countries between 2000 and 2017 (Nature Medicine, (2020), 26, 5, (750-759), 10.1038/s41591-020-0807-6)
No full textAn amendment to this paper has been published and can be accessed via a link at the top of the paper. © 2020, The Author(s)
