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

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

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

Experimental implementation of a cantilevered piezoelectric energy harvester with a dynamic magnifier

[abstract not available

Synthesis and Characterization of Green Zinc-Metal-Pillared Bentonite Mediated Curcumin Extract (Zn@CN/BE) as an Enhanced Antioxidant and Anti-Diabetes Agent

Green zinc-metal-pillared bentonite mediated curcumin extract (Zn@CN/BE) was synthesized and characterized as a low-cost and multifunctional (curcumin-based phytochemicals, zinc-capped curcumin, zinc/curcumin complexes, and zinc-pillared bentonite) antioxidant and antidiabetic agent with enhanced activity. The activities of the Zn@CN/BE structure were assessed in comparison with curcumin and ZnO as individual components and in the presence of miglitol and acarbose commercial drugs as controls. The structure validated remarkable antioxidant activities against the common oxidizing radicals (nitric oxide (94.7 ± 1.83%), DPPH (96.4 ± 1.63%), ABTS (92.8 ± 1.33%), and superoxide (62.3 ± 1.63 %)) and inhibition activities against the main oxidizing enzymes (porcine α-amylase (89.3 ± 1.13%), murine α-amylase (70.8 ± 1.54%), pancreatic α-Glucosidase (99.3 ± 1.23%), intestinal α-Glucosidase (97.7 ± 1.24%), and amyloglucosidase (98.4 ± 1.64%)). The reported activities are higher than the activities of individual components and the studied ascorbic acid as well as the commercial drugs. This enhancement effect was assigned to the impact of the zinc pillaring process within the curcumin/bentonite host, which induced the stability, dispersions, and interactive interface of the essential active compounds in addition to the solubility and release rate of the intercalated curcumin extract. This paper recommends the application of the Zn@CN/BE structure as an enhanced, low-cost, biocompatible, safe, and simply produced antioxidant and antidiabetic agent