A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: A Case report

Abstract Background Muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterized by variable degrees of progressive muscle degeneration and weakness. There is a wide variability in the age of onset, symptoms and rate of progression in subtypes of these disorders. Herein, we present the results of our study conducted to identify the pathogenic genetic variation involved in our patient affected by rigid spine muscular dystrophy. Case presentation A 14-year-old boy, product of a first-cousin marriage, was enrolled in our study with failure to thrive, fatigue, muscular dystrophy, generalized muscular atrophy, kyphoscoliosis, and flexion contracture of the knees and elbows. Whole-exome sequencing (WES) was carried out on the DNA of the patient to investigate all coding regions and uncovered a novel, homozygous missense mutation in SEPN1 gene (c. 1379 C > T, p.Ser460Phe). This mutation has not been reported before in different public variant databases and also our database (BayanGene), so it is classified as a variation of unknown significance (VUS). Subsequently, it was confirmed that the novel variation was homozygous in our patient and heterozygous in his parents. Different bioinformatics tools showed the damaging effects of the variant on protein. Multiple sequence alignment using BLASTP on ExPASy and WebLogo, revealed the conservation of the mutated residue. Conclusion We reported a novel homozygous mutation in SEPN1 gene that expands our understanding of rigid spine muscular dystrophy. Although bioinformatics analyses of results were in favor of the pathogenicity of the mutation, functional studies are needed to establish the pathogenicity of the variant

Association of TIM-1 5383-5397ins/del and TIM-3-1541C > T polymorphisms with multiple sclerosis in Isfahan population

Multiple sclerosis (MS) is an organ-specific autoimmune disease in central nervous system, affecting about 2.5 million people around the world. Probable involvement of two newly identified immunoregulator molecules, TIM-1 and TIM-3, has been reported in autoimmune diseases. In this study, for the first time, the association of TIM-1 5383-5397ins/del and TIM-3 -1541C>T polymorphisms with MS in an Iranian population was considered. The results of our study showed that there is no significant association between TIM-1 5383-5397ins/del and MS (P = 0.38); however, the frequency of CT genotype of TIM-3 -1541C>T in patient group was significantly higher than the control group, and there was a significant association between CT genotype and MS (P = 0.009, OR = 4.08)

Feasibility of rainwater harvesting and consumption in a middle eastern Semiarid urban area

Recent developments of Middle Eastern metropolitans, and the related soaring trend of population increase, is contemporary with the impacts of climate changes. This applies extra pressures to the centralized large-scale water treatment and distribution systems. Rainwater harvesting (RWH) for domestic urban activities can be a sustainable option of adapting with the rising demand of soft water in such an arid/semiarid area. A pilot system of rainwater draining and storage was constructed for alleviating parts of soft water scarcity in Mashhad, the second most populous city of Iran. Measurements were collected for two years at the drainage basin outlet and inside of a storage tank, which has been equipped for water harvesting purposes. We performed some preliminary stochastic analysis and evaluated probabilistic properties of the collected dataset, aiming to explain them with respect to the physical characteristics of the RWH system. Data clustering analysis confirmed that the quality of the water may change during rainwater draining and storage in the RWH tank. Particularly, sodium content of the sampled water in the drainage catchment illustrated higher variations, compared with the ones evaluated for the stored water in the reservoir tank. This can confirm that the quality of the stored water in the RWH reservoir is more stable than that obtained for each separate rainfall–runoff event. We assessed the potential of the harvested water in different consumption contexts, in light of some national and international water quality (physicochemical, biological, and toxic pollutants) guidelines. We relied on water quality indices (WQI) to interpret multiparametric properties of the collected rainwater from urban surfaces; consequently, the quality of the harvested water was categorized with moderate to almost good attributes. This makes it well suited for irrigation uses, which can play a relevant role against water shortages in the analyzed semiarid urban region. Otherwise, infiltration and treatments need to be performed if using harvested water for drinking consumptions (of human or livestock), some of which may be costly for local owners/uses. We provide some suggestions for improving efficiency of the system and enhancing the quality of the harvesting water

Talent management for high school principal’s managers in Shiraz and presentation of suitable model

Background and Objectives: One of the most important principles in educational organizations and institutions is human capital and that talent management can help promote it. The main purpose of this study is to "present the talent management model of high school principals in Shiraz". Methods: The present study is an applied in terms of purpose. This research is a descriptive survey in terms of data collection method. The instrument used in this study was a 39-item researcher-made questionnaire. In the pilot study, there were several tools and questionnaires in the field of talent management that these questionnaires examined only the three dimensions of attracting, retaining and promoting talent management. Therefore, in order to use more accurate tools, a researcher-made questionnaire has been developed. Due to the use of a researcher-made questionnaire from the heuristic factor analysis test through the validity of the construct has been confirmed. In order to compile the questionnaire, first by studying the existing empirical background and some resources related to talent management, the main components affecting talent management were identified and counted. In this research, exploratory factor analysis has been used to select the number of factors and special value. Eigenvalue is the amount of variance of all tests extracted by factors. According to this criterion, the minimum eigenvalue for factor selection is greater than one. The results of KMO and Bartlett tests were very suitable for factor analysis for research data. Because the value of KMO index is equal to 0.768 and the level of significance of this test is 0.000. Therefore, it can be said that the data have an acceptable appropriat eness for the factor analysis test. Finally, the reliability of the questionnaire was confirmed by Cronbach's alpha method and the total alpha was 0.899, which confirmed the high reliability of the questionnaire. The statistical population of this study includes all principals of secondary schools in Shiraz, which includes a total of 188 schools in four education districts of Shiraz, which were selected by the principals of these schools. Findings: Structural equation test showed the order of path coefficient value from highest to lowest as following: (1) talent evaluation and discovery component; (2) the talent acquisition component and the third was related to the talent retention component, the fourth was the talent promotion, and finally, the fifth, to the development and training component. The results of Friedman rank test show that according to the degree of freedom (4) and Chi-square (856/139) and the level of significance (0.000), the five components studied have different means. The highest average is related to the talent absorption component (average 5) in the first rank and in the second rank the development and education component (average 3.84), talent retention in the third rank (average 2.41), the fourth rank in talent promotion (average 2.08 ) And is in the fifth and final rank of talent assessment and discovery (average 1.67). Conclusion: The results of the research showed that several components such as development and education, evaluation and discovery of talent and talent promotion affect the talent management of principals in schools. It is necessary to apply the talent management model in a practical way in order to promote human capital in education.   ===================================================================================== COPYRIGHTS  ©2020 The author(s). This is an open access article distributed under the terms of the Creative Commons Attribution (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, as long as the original authors and source are cited. No permission is required from the authors or the publishers.  ====================================================================================

Scorpion bites in the north-western of Khuzestan province from May 2002 to December 2003

Background & Aim: Scorpion bites are one of the major health problems in some parts of Iran. This study has been conducted to evaluate the scorpion biting in north-western of Khuzestan province from May 2002 to December 2003. Methods & Materials: This study was a prospective case series conducted from May 2002 to December 2003. Location of the study was the Northwest region of Khuzestan Province. Results: From all 139 cases of scorpion bites by Androctonus crassicauda came to the clinic most bites were occurred during summer. All patients were treated conservatively without injecting anti-scorpion serum and discharged without any complication. Conclusion: The major threat in that region is because of Androctonus crassicauda bites. Considering that there is no need to inject anti-scorpion serum for these kinds of bites, further evaluation and doing more through studies about treatment is recommended. Moreover, no relation was seen between scorpion bites and different nights of month

System for recycling wastewater resulting form the washing and rinsing proces sof a dishwasher, expecially for reuse in said process and for irrigation of plants, and process for the use of said system

A system for recycling waste water form the washing and rinsing process of a dishwasher is described, said dishwasher having at least one washing cycle and at least one rinsing cycle, the system comprising: a plant irrigation system; a first reservoir, adapted to receive and contain liquid drained from the dishwasher as a result of said washing and rinsing cycles; a second reservoir adapted to receive and contain a liquid; a first filter adapted to contain a liquid coming from said reservoir; a biological filter adapted to further filter the liquid coming from said first filter, said biological filter being adapted to transform an organic component of the liquid received from said first filter into an inorganic component comprising nutrition substances for said plants