Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis

Background Very long-chain fatty acids (VLCFAs) composed of more than 20 carbon atoms are essential in the biosynthesis of cell membranes in the brain, skin, and retina. VLCFAs are elongated beyond 28 carbon atoms by ELOVL4 enzyme. Variants in ELOVL4 are associated with three Mendelian disorders: autosomal dominant (AD) Stargardt-like macular dystrophy type 3, AD spinocerebellar ataxia, and autosomal recessive disorder congenital ichthyosis, spastic quadriplegia and impaired intellectual development (ISQMR). Only seven subjects from five unrelated families with ISQMR have been described, all of which have biallelic single-nucleotide variants. Methods We performed clinical exome sequencing on probands from four unrelated families with neuro-ichthyosis. Results We identified three novel homozygous ELOVL4 variants. Two of the families originated from the same Saudi tribe and had the exact homozygous exonic deletion in ELOVL4, while the third and fourth probands had two different novel homozygous missense variants. Seven out of the eight affected subjects had profound developmental delay, epilepsy, axial hypotonia, peripheral hypertonia, and ichthyosis. Delayed myelination and corpus callosum hypoplasia were seen in two of five subjects with brain magnetic rosonance imaging and cerebral atrophy in three. Conclusion Our study expands the allelic spectrum of ELOVL4-related ISQMR. The detection of the same exonic deletion in two unrelated Saudi family from same tribe suggests a tribal founder mutation

Managing changes initiated by industrial big data technologies : a technochange management model

With the adoption of Internet of Things and advanced data analytical technologies in manufacturing firms, the industrial sector has launched an evolutionary journey toward the 4th industrial revolution, or so called Industry 4.0. Industrial big data is a core component to realize the vision of Industry 4.0. However, the implementation and usage of industrial big data tools in manufacturing firms will not merely be a technical endeavor, but can also lead to a thorough management reform. By means of a comprehensive review of literature related to Industry 4.0, smart manufacturing, industrial big data, information systems (IS) and technochange management, this paper aims to analyze potential changes triggered by the application of industrial big data in manufacturing firms, from technological, individual and organizational perspectives. Furthermore, in order to drive these changes more effectively and eliminate potential resistance, a conceptual technochange management model was developed and proposed. Drawn upon theories reported in literature of IS technochange management, this model proposed four types of interventions that can be used to copy with changes initiated by industrial big data technologies, including human process intervention, techno-structural intervention, human resources management intervention and strategic intervention. This model will be of interests and value to practitioners and researchers concerned with business reforms triggered by Industry 4.0 in general and by industrial big data technologies in particular

Relationship of self-reported body size and shape with risk for prostate cancer: A UK case-control study

Introduction Previous evidence has suggested a relationship between male self-reported body size and the risk of developing prostate cancer. In this UK-wide case-control study, we have explored the possible association of prostate cancer risk with male self-reported body size. We also investigated body shape as a surrogate marker for fat deposition around the body. As obesity and excessive adiposity have been linked with increased risk for developing a number of different cancers, further investigation of self-reported body size and shape and their potential relationship with prostate cancer was considered to be appropriate. Objective The study objective was to investigate whether underlying associations exist between prostate cancer risk and male self-reported body size and shape. Methods Data were collected from a large case-control study of men (1928 cases and 2043 controls) using self-administered questionnaires. Data from self-reported pictograms of perceived body size relating to three decades of life (20’s, 30’s and 40’s) were recorded and analysed, including the pattern of change. The associations of self-identified body shape with prostate cancer risk were also explored

Evaluating hospital websites in Kuwait to improve consumer engagement and access to health information:a cross-sectional analytical study

Abstract Background Current advances in information and communication technology have made accessing and obtaining health-related information easier than ever before. Today, many hospital websites use a patient-centric approach to promote engagement and encourage learning for better health-related decision making. However, little is known about the current state of hospital websites in the State of Kuwait. This study aims to evaluate hospital websites in Kuwait and offer recommendations to improve patient engagement and access to health information. Methods This study employs a cross-sectional analytical approach to evaluate hospital websites in Kuwait in 2017. The websites of hospitals that provide in-patient services were identified through a structured search. Only active websites that were available in either English or Arabic were considered. The evaluation of the websites involved a combination of automated and expert- based evaluation methods and was performed across four dimensions: Accessibility, Usability, Presence, and Content. Results Nine hospitals met the inclusion criteria. Most of the websites fell short in all four dimensions. None of the websites passed the accessibility guidelines. The usability of websites varied between hospitals. Overall, the majority of hospitals in Kuwait have rudimentary online presence and their websites require careful reassessment with respect to design, content, and user experience. The websites focus primarily on promoting services provided by the hospital rather than engaging and communicating with patients or providing evidence-based information. Conclusions Healthcare organization and website developers should follow best-practices to improve their websites taking into consideration the quality, readability, objectivity, coverage and currency of the information as well as the design of their websites. Hospitals should leverage social media to gain outreach and better engagement with consumers. The websites should be offered in additional languages commonly spoken by people living in Kuwait. Efforts should be made to ensure that health information on hospital websites are evidence-based and checked by healthcare professionals

Design of an automatic transmission system to improve energy capture of vertical axis wind turbine

Nowadays, renewable energies are highly demanded as they are sustainable and environmentally friendly. One of the renewable energy is wind, and it can be harvested by using a wind turbine. There are two types of wind turbines: Horizontal Axis Wind Turbine (HAWT) and Vertical Axis Wind Turbine (VAWT). Large scale wind turbines mostly use Continuously Variable Transmission (CVT) as the transmission system, which is needless to say its efficiency; it is highly efficient. However, it comes with high complexity and cost too. Meanwhile, most small-scale wind turbines in the current market offer a one-speed gearing system only, which means no gear ratios are varied, resulting in low energy efficiency and leading to gears failure. They have recognized a need for the continuous monitoring of major wind turbine components, gearbox parts. These components are seen to require substantial maintenance and repair efforts. For a fixed-speed wind turbine, the generator is directly connected to the electrical grid and they have several drawbacks in which the reactive power or the grid voltage level cannot be controlled. This research concerns the design of an automatic transmission system in VAWT to increase its efficiency in harvesting energy. The gear and clutch system was designed and fabricated for VAWT and the system was analyzed. The gear and clutch system was calculated using the gear and clutch formula. Then, the system was designed using Solidworks and fabricated using a 3D printer for VAWT. The gear ratios have been varied and the number of gears has been increased to two. A Centrifugal clutch is applied to the gear to perform its automatic gear shifting. During the test, incoming wind speed is firstly increased until the vertical axis wind turbine started to spin, then the wind speed is decreased. The incoming wind speed is restricted from 0 m/s to 20 m/s. The energy harvesting efficiency is measured by comparing a vertical axis wind turbine's output voltage and output power with automatic and without automatic transmission systems. The result shows that applying automatic transmission systems with a centrifugal clutch for VAWT is reliable and improves its efficiency. Generally, with the application of an automatic transmission system, the start-up wind speed for VAWT to spin was reduced from 20 m/s to 13 m/s. The VAWT with an automatic transmission system started to spin at 13 m/s of wind speed and it could maintain its spinning even the incoming wind speed was reduced. The voltage and power produced also show that the VAWT can optimize energy harvesting efficiency with less energy loss

Comparing trastuzumab-related cardiotoxicity between elderly and younger patients with breast cancer : a prospective cohort study

OBJECTIVE: Trastuzumab is an HER-2 targeted humanized monoclonal antibody that significantly improves metastatic and non-metastatic breast cancer therapeutic outcomes. This study compares trastuzumab outcomes between two age cohorts in the Kuwait Cancer Control Centre (KCCC). PATIENTS AND METHODS: In a prospective comparative observational study, 93 HER-2 positive breast cancer patients undergoing different chemotherapy protocols + trastuzumab between April 2016 and April 2019 were included and divided into two cohorts based on their age (<60 and ≥60 years old). The individual decline in the LVEF from the baseline was calculated and compared between the two age cohorts. Logistic regression analysis was applied to investigate the association between age, comorbidities, BMI, anthracycline treatment, and baseline LVEF value, and trastuzumab-induced cardiotoxicity after adjustments made for the disease stage. RESULTS: The median baseline LVEF was 65% in both age cohorts (IQR 8% and 9% for older and younger patients, respectively). Whereas the median LVEF post-trastuzumab treatment was 51% and 55% in older and younger patients, respectively (IQR 8%; p-value = 0.22), even though older patients had significantly lower exposure to anthracyclines compared to younger patients (60% and 84.1%, respectively; p-value <0.001). 86.7% and 55.6% of older and younger patients, respectively, developed ≥10% decline in their LVEF from the baseline. Statistically, age was the only factor that significantly correlated with developing ≥10% decline in the LVEF (OR 4; p-value <0.012). CONCLUSIONS: Breast cancer patients aged 60 years and above in Kuwait were at a 4-fold higher risk of developing ≥10% decline in their LVEF from the baseline value compared to younger patients during trastuzumab treatment. Previous exposure to anthracyclines and comorbidities were not associated with a significantly increased cardiotoxicity risk in this study