26 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
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
The effect of graphitic target density on carbon nanotube synthesis by pulsed laser ablation method
No full textWearing your destination: Making tourism experience accessible for people with travel hesitation by using smart glasses
No full textAbstract
This quantitative study is probably one of the primary efforts for offering a potential solution for people with short- and long-term travel hesitation through the lense of Self-Efficacy and Learned Helplessness Theories as well as Technology Acceptance Model (TAM). In this study, travel hesitation is divided to two segments of permanent and temporary. Permanent travel hesitation includes age restrictions, visual, hearing, body impairment, Autism, and any types of disabilities. Furthermore, temporary travel hesitation includes traveling cost, having a new-born, having any types of phobias, being afraid of COVID-19 or any other COVID variants, and having no desires and interest for travel.
The purpose of this study is to offer a solution for people with travel hesitations, and it includes three research questions. The data were collected from 344 sample size through Amazon Mechanical Turk (MTurk) in December 2021. The collected data were analysed through SmartPlS 3.0 software using PLS algorithm and bootstrapping techniques. This research findings verified that people with travel hesitation had willingness to use smart glasses for their travel purposes and also people’s intention to travel physically to a destination after trying smart glasses was increased.Embargo status: Restricted until 09/2027. To request the author grant access, click on the PDF link to the left
A Critique and study of a narrative of the Fatimids of Egypt and the Ismaili based on the story of Bustan-e-Khayal (Based on historical sources)
No full textStories and tales as an important part of popular culture are the connection between people now and the past that transmits cultural and doctrinal principles from one generation to another. Based on the approaches of modern historiography and the narrative context of historical narratives, some stories also contain historical contexts that are useful to study alongside historical sources. The myth of Bustan-e-Khayal is a folk tale based on the history of the Fatimid caliphs of Egypt and the Ismaili Shiites, which begins based on historical events that took place during. The author has brought these historical figures into the realm of myth, attributing imaginary stories to them. This article follows the presence of the Ismaili religion and the Fatimid caliphs in this story and critiques it based on historical sources and narratives in a descriptive-analytical manner. The findings of this study and their critique indicate the empirical confirmation of some of the author's narrations Based on the historical and doctrinal sources of this political and religious sect, but in some cases, there were differences. The extraordinary face that the author presents of some of the Fatimid caliphs was very close to the aspect of the sanctity and divinity of these caliphs, which has been confirmed by the testimony of historical narrator
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
Effects of vegetation density, arrangement, and morphology on flow structure under ice-covered condition
No full textAquatic vegetation appears very often in rivers and floodplains, which significantly affects the flow structure. On the other hand, a common feature of cold regions is the presence of river ice on water surfaces. Ice cover imposes an additional boundary layer on water surface which leads to significant change in flow structure and bed deformation. It also causes a decreasing trend of velocity profile near the cover. Because of vegetation’s positive impacts on water quality, habitat, and channel stability, researchers now advocate replanting and restoring projects in rivers, especially in agricultural waterways, floodways, and emergency spillways. The expansion of vegetation in fluvial systems may worsen the flood impact since highly dense vegetation in a channel reduces its flow capacity due to the increase in flow resistance and decrease in the channel width. Therefore, an accurate and critical assessment of the vegetation density and distribution pattern through reduction of bulk velocity is crucial in sustainable restoration projects. To the author's knowledge, no studies have been conducted to investigate the impacts of both ice cover and vegetation on flow resistance and channel bed deformation. It is thus necessary to examine the connection between vegetation and ice covers thoroughly in order to guarantee successful restoration projects. Most of research projects on submerged vegetation have been done in small-scale laboratory flume and specifically under the open channel flow condition. Besides, most of reported research uses uniform sediment which is not an appropriate representative of natural river systems. In the present study, deflected and non-bending model vegetation elements arranged in both square and staggered configurations with different density in the channel bed with three different non-uniform sands under different cover conditions of water surface including open channel flow and ice-covered flow conditions were used. In order to simulate the ice cover condition, smooth and rough ice covers made of Styrofoam panels were created to investigate the impacts of ice cover roughness on channel bed deformation. To represent non-uniform sediment condition, three different bed materials with median particle size (D50) of 0.50 mm, 0.60 mm, 0.98 mm were used. Results showed that the most significant variable influencing the depth of scour holes under ice-covered flow conditions is the ratio of the ice cover roughness to the bed roughness and in open channel flow conditions, the flow Froude number is determining. In the conducted experiments, it was consistently observed that the maximum scour depths occurred at the upstream, front face of the vegetation elements. It was found that the scour holes were deeper and longer under ice-covered flow. In the presence of vegetation in the bed under ice-covered flow conditions, the velocity profiles exhibit a distinct pattern characterized by two peak
values. The study revealed an inverse relationship between canopy density and the dimensions of the wake zone. As the spacing distance between deflected vegetation elements decreases, the streamwise velocity experiences significant retardation slightly below the inflection point. With a sparser vegetation canopy, the inflectional region tends to diminish or disappear. Furthermore, the study observed that the inflection point was not observed in non-bending vegetation. Additionally, velocity profiles showed more pronounced inflection points in the case of a staggered arrangement of vegetation elements compared to a square arrangement. Results of this study will provide vital information for river management, channel restoration, and rehabilitation of fluvial environments through understanding the effect of various vegetation densities, arrangement patterns and morphology, as well as the revitalization of cold-weather river ecosystems
Corrigendum to “The report of ovarian tissue transplant in Iran: A case report” [Int J Reprod BioMed 2024; 22: 323–328]
No full textThe publisher has been informed of an error that occurred on page 323 in which the third authors affiliation must be changed to Molecular Medicine Research Center, Research Institute of Basic Medical Sciences, Rafsanjan University of Medical Sciences, Rafsanjan, Iran. On behalf of the author, the publisher wishes to apologize for this error. The online version of the article has been updated on September 30, 2024 and can be found at https://doi.org/10.18502/ijrm.v22i4.16393
