BackgroundCompared with conventional genotyping, which typically tests for a limited number of mutations, next‐generation DNA sequencing (NGS) provides increased accuracy for carrier screening. The objective of this study was to evaluate the cost effectiveness of carrier screening using NGS versus genotyping for 14 of the recessive disorders for which medical society guidelines recommend screening.MethodsData from published literature, population surveys, and expert opinion were used to develop a decision tree model capturing decisions and outcomes related to carrier screening and reproductive health.ResultsModeling a population of 1,000,000 couples that was representative of the United States population and that contained 83,421 carriers of pathogenic mutations, carrier screening using NGS averted 21 additional affected births as compared with genotyping, and reduced costs by approximately $13 million. As compared with no screening, NGS carrier screening averted 223 additional affected births. The results are sensitive to assumptions regarding mutation detection rates and carrier frequencies in multiethnic populations.ConclusionThis study demonstrated that NGS‐based carrier screening offers the greater benefit in clinical outcomes and lower total healthcare cost as compared with genotyping.
Nowadays, there is a trend toward early diagnosis and treatment of rheumatoid arthritis (RA) especially in patients with early signs of bone erosion which can be detected by magnetic resonance imaging (MRI). The aim of following study is to compare the sensitivity and specificity of ultrasonography (US) and conventional radiography (CR) compared to MRI for early detection of bone erosion in RA patients. In 12 patients with RA diagnosis, 120 first to fifth metacarpophalangeal joints and 96 second to fifth proximal interphalangeal joints were examined. Non-contrast MRI, US and CR were performed for bone erosion evaluation. For further analysis, the patients were divided in two equal groups according to disease activity score (DAS28). The overall sensitivity and specificity of US compared to MRI in detecting bone erosion were 0.63 and 0.98, respectively with a considerable agreement (kappa = 0.68, p < 0.001). Sensitivity and specificity of CR compared to MRI in detecting bone erosion were 0.13 and 1.00, respectively (kappa = 0.20, p < 0.001). In patients with more active disease, the sensitivity and specificity were 0.67 and 0.99 (kappa = 0.74, p < 0.001) compared to 0.59 and 0.97 (kappa = 0.61, p < 0.001) for the rest of patients according to DAS28. Conclusively, these findings reveal an acceptable agreement between US and MRI for detection of bone erosion in patients with early RA but not CR. US might be considered as a valuable tool for early detection of bone erosion especially when MRI is not available or affordable. Besides, it seems the US could be more reliable when the disease is more active.
In order to suggest the best cultivars of gladiolus to grow in moderate regions of Iran, an experiment was carried out in a complete randomized block design in three replications with five cultivars of Gladiolus grandiflorus ('Oscar', 'Red Advance', 'White Prosperity', 'Rose Supreme' and 'Lemon Drop') at the ornamental plants research center in Mahallat city of Iran. In reproductive and yields traits, 'Red Advance' were the highest. The highest vegetative traits were observed in 'Oscar'. The highest spike length (84.6 cm), number of florets (18.00), vase life (9.33 days) and plant height (172.88 cm) were observed in 'Oscar'. The highest corm weight (51.16 mm), numbers of cormlets (54.66) were observed in 'Red Advance'. The results showed that the rate of propagation was high in 'Red Advance'. The highest heritability in traits were estimated as plant height (98.67%), leaf width (98.66%), leaf length (98.12%), number of florets (98.55%), length of spike (98.90%) and diameter of stem (98.84%). There was a positive and significant correlation between the yield of corm and cormlets with the number of cormlet (r = 0.99) and diameter of cormlet (r = 0.96) and diameter of cormlet with the number of cormlet (r = 0.96). 'Red Advance' cultivar may be recommended for cultivation as alternative to some oldest cultivars (like 'Oscar'), which showed potentiality for marketing both in domestic and foreign markets.
Gladiolus is one of the most important and popular cut-flower bulbous in Iran. The aim of this research was to produce new, high-quality hybrids through hybridization. We generated two promising hybrids (OPRC16 and OPRC57) combination from the varieties “Amsterdam” and “White Prosperity”. The Research was conducted in Ornamental Plants Research Center in Mahallat from 2014 to 2018. Values of Hm for traits were defined as the difference between the mid-F1 value and the mid-parent value, Mean Mid-parent Heterosis (MPH) or (Hmp) and High Parent Heterosis (HPH) or (Hsp). The results showed that the morphological analysis revealed the heredity and variation in the promising hybrids. The results for the hybrid OPRC16 showed that the Hm and Hmp values were negative for peduncle length but positive for other traits. The Hsp value was observed to be negative for the traits of peduncle length, leaf width, stem diameter, and cormels diameter, but it was positive for other traits. According to the results for the hybrid OPRC57, the Hm and Hmp values were negative for plant height, floret number, peduncle length, floret diameter, stem diameter, spike length, cormles weight, and cormlet diameter and negative for other traits. Peduncle length was positive in other traits. The Hmp value was negative for peduncle length, but positive for other traits. The Hsp value was recorded to be positive for leaf length, bud diameter, vase life, cormlet number, and cormles yield but negative for other traits. All in all, OPRC57 showed a negative heterosis in most traits. Based on the results, when ‘Amsterdam’ is used as the maternal plant in crosses, it has more positive heterosis effects than when it is used as the paternal parent. These results indicate that major of traits in the phenotypic and genetic diversity coefficient was very low, indicating that they had less environmental effects, since the genotypes were cultivated under similar and controlled conditions.
To prepare for the urban development of 2.5 billion people by 2050, the development of low-carbon, resilient, and liveable urban settlements is crucial. Not only do metropolises contribute to global climate change by rapidly emitting and increasing emissions but they themselves are very fragile and vulnerable to these changes. The purpose of this study is to optimize a model for the development of renewable energies in Tehran City and its application in different sectors to achieve sustainability. The research method is according to the type of the applied-developmental study. Information is based on documentation and field methods. Data were collected using a questionnaire from 76 experts and analysed using MICMAC software. The results indicate the fact that the use of public and specific stimuli and incentives for electricity producers to use renewable energy will accelerate the development of renewable energy at the urban level. In order to improve the existing situation, the unsustainable model can be offered to change the situation in favour of the use of new energy at the regional level. Based on the research results, in general, patterns of deployment and development of renewable energies are grouped into five main groups: the use of financial instruments, the use of legal instruments, the development of technology, education and awareness-raising that urban sustainability in the energy sector can be considered based on these four pillars.
During 2015-16, the symptoms of little leaf, leaf roll and stem fasciation were observed on Conocarpus erectus trees in Ahvaz, southwestern Iran. Nested polymerase chain reaction with phytoplasma 16S rDNA-specific primers detected the pathogen in the symptomatic plants. Both, the BLASTn search and phylogenetic analysis of the partial 16S rDNA sequence showed that Conocarpus erectus little leaf phytoplasma is a member of the 16Sr II group 'Candidatus Phytoplasma aurantifolia'.
Quality of life is a concept used to describe the development of the welfare of society, and improving the quality of life is one of the most important goals of governments around the world. Informal settlements, as one of the most vulnerable urban areas, are always in unfavorable conditions in terms of various social, economic, and physical indicators. Therefore, the main purpose of this study is to investigate the status of various quality of life indicators in informal settlements around the metropolis of Tehran in Iran. This research is descriptive, analytical, and correlational based on primary data in which the initial data are collected through the documentary and survey (field) method using a questionnaire. The collected data were processed by SPSS and SmartPLS software. Based on the results of the t-test, quality of life indices in informal settlements around the metropolis of Tehran, on a Likert scale with an average of 23.2, is at a low level. Also, the results of the PSL path modelling and multivariate regression test show that increasing the quality of social, economic, physical, service, and access indicators, in terms of residents, has the greatest impact on improving the quality of life of this urban fabric and security index. It has the least impact. There is also a significant relationship between indicators, and the mental perspective of citizens changes under social, service, economic, and physical conditions.
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