Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of photoreceptor function and contributes significantly to the etiology of blindness globally but especially in the industrialized world. The extreme locus and allelic heterogeneity of these disorders poses a major diagnostic challenge and often impedes the ability to provide a molecular diagnosis that can inform counseling and gene-specific treatment strategies. In a large cohort of nearly 150 RD families, we used genomic approaches in the form of autozygome-guided mutation analysis and exome sequencing to identify the likely causative genetic lesion in the majority of cases. Additionally, our study revealed six novel candidate disease genes (C21orf2, EMC1, KIAA1549, GPR125, ACBD5, and DTHD1), two of which (ACBD5 and DTHD1) were observed in the context of syndromic forms of RD that are described for the first time

Burnout among surgeons before and during the SARS-CoV-2 pandemic: an international survey

Background: SARS-CoV-2 pandemic has had many significant impacts within the surgical realm, and surgeons have been obligated to reconsider almost every aspect of daily clinical practice. Methods: This is a cross-sectional study reported in compliance with the CHERRIES guidelines and conducted through an online platform from June 14th to July 15th, 2020. The primary outcome was the burden of burnout during the pandemic indicated by the validated Shirom-Melamed Burnout Measure. Results: Nine hundred fifty-four surgeons completed the survey. The median length of practice was 10 years; 78.2% included were male with a median age of 37 years old, 39.5% were consultants, 68.9% were general surgeons, and 55.7% were affiliated with an academic institution. Overall, there was a significant increase in the mean burnout score during the pandemic; longer years of practice and older age were significantly associated with less burnout. There were significant reductions in the median number of outpatient visits, operated cases, on-call hours, emergency visits, and research work, so, 48.2% of respondents felt that the training resources were insufficient. The majority (81.3%) of respondents reported that their hospitals were included in the management of COVID-19, 66.5% felt their roles had been minimized; 41% were asked to assist in non-surgical medical practices, and 37.6% of respondents were included in COVID-19 management. Conclusions: There was a significant burnout among trainees. Almost all aspects of clinical and research activities were affected with a significant reduction in the volume of research, outpatient clinic visits, surgical procedures, on-call hours, and emergency cases hindering the training. Trial registration: The study was registered on clicaltrials.gov "NCT04433286" on 16/06/2020

Exploiting of geothermal energy reserve and potential in Saudi Arabia: A case study at Ain Al Harrah

Saudi Arabia is enriched by geothermal resources and related to the tectonic activity of Red Sea, volcanic rocks and ridges. The geothermal energy reserve, potential and their reserve for possible energy production are investigated. Nowadays, production process of crude oil accompanied with flaring of gases result in excessive CO2 emissions. If the growth rate of national oil consumption continues, local demand will be doubled within a decade. The study of geothermal energy is covered. A selection of possible applications of geothermal futures is discussed. Furthermore, the study has focused on necessity of maintaining green and clean environment as well as climate of lowest dust content

Effect Of Field Environmental Exposure Conditions On The Properties Of Hardened Concrete

The effects of harsh field environmental exposure conditions on compressive, tensile and flexural strengths and durability aspects of concrete such as chloride penetration, sulphate attack and carbonation were investigated for a period of 240 days. The environmental variables studied were control laboratory condition at Qatar University, chloride and sulphate rich ground field condition (Zone A) located 10 Km from Doha City, and below the water table field condition (Zone B) exist at the same selected site. The results indicate that concrete specimens kept at ground field condition (Zone A) exhibit lower compressive, tensile and flexural strength values than both the control laboratory and the below water table field conditions. The loss in strength has been attributed to the cessation of hydration due to drying of the concrete. The strength values of control laboratory condition and below water table field condition (Zone B) were marginally comparable in spite of the considerable difference of chloride, sulphate and carbonation values