Making on-line science course materials easily translatable and accessible worldwide: Challenges and solutions

The PhET Interactive Simulations Project recently partnered with the Excellence Center of Science and Mathematics Education at King Saud University with the joint goal of making simulations available worldwide. One of the main challenges of this partnership is to make PhET simulations easily translatable so that truly anyone with a computer can use them in their classroom. The PhET project team has created the Translation Utility that allows a person, who is fluent in both English and another language, to easily translate any of the PhET simulations. This can be done with minimal computer expertise, making the translation process accessible to faculty and teachers. In this presentation we will share solutions to many of the unexpected problems we encountered that would apply in general to on-line scientific course materials including working with a language that is written right-to-left, different character sets, possible misconceptions and various conventions for expressing equations, variables, units and scientific notation

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan

Background Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier. Several but not all genes with underlying mutations have been identified, but a clear correlation between genetic causes and clinical picture has not been described to date. Methods Our study included 19 families from Saudi Arabia, Yemen, and Pakistan. All patients were born to consanguineous parents and diagnosed with ARCI. Mutations were analyzed by homozygosity mapping and direct sequencing. Results We have detected mutations in all families in five different genes: TGM1, ABCA12, CYP4F22, NIPAL4, and ALOXE3. Five likely pathogenic variants were unknown so far, a splice site and a missense variant in TGM1, a splice site variant in NIPAL4, and missense variants in ABCA12 and CYP4F22. We attributed TGM1 and ABCA12 mutations to the most severe forms of lamellar and erythematous ichthyoses, respectively, regardless of treatment. Other mutations highlighted the presence of a phenotypic spectrum in ARCI. Conclusion Our results contribute to expanding the mutational spectrum of ARCI and revealed new insights into genotype/phenotype correlations. The findings are instrumental for a faster and more precise diagnosis, a better understanding of the pathophysiology, and the definition of targets for more specific therapies for ARCI

Characteristics of bladder neoplasms in the young population of Saudi Arabia

Context: Bladder neoplasms are a well-studied subject in medicine. However, the evidence of bladder neoplasms in children and the young adult population (≤40 years), particularly in Saudi Arabia, is lacking. Aims: The aims of this study were to identify histopathological characteristics as well as clinical features, prognosis, and treatment of bladder neoplasms in this age group in a single tertiary referral center, Riyadh, Saudi Arabia. Settings and Design: A retrospective cohort study. Materials and Methods: Children and young adults (≤40 years) diagnosed with epithelial and mesenchymal bladder neoplasms from 1994 to 2017. Statistical Analysis Used: Descriptive data are presented as mean (standard deviation) or median (interquartile range) for continuous variables and n (%) for categorical variables. Statistical Package for Social Sciences version 23 was used. Results: Thirty-eight cases were identified. The majority, 71.1% (n = 27) were male. The median age of diagnosis was 33 years ranging from 1 to 40 years. Nearly 45% (n = 17) were smokers. Macroscopic hematuria was present in 57.8% (n = 22). The most common histopathology was papillary urothelial carcinoma (n = 18, 58%). All mesenchymal neoplasms accounted for 18.4% (n = 7). Of all malignancies, 63.2% (n = 24) and 44.7% (n = 17) were low stage and low grade, respectively. Transurethral resection of bladder tumor (TURBT) was conducted for 81.6% (n = 31). The mean length of follow-up was 36.05 months (±39.4 months). Recurrence occurred in 15.8% (n = 6) and 7.9% (n = 3) had progression. Distant metastasis was reported in 5.3% (n = 2). Nearly 8% (n = 3) died during their follow-up. Conclusions: Bladder malignancies at the early fourth decade of life tend to be a low stage and low grade. The most common histopathology was papillary urothelial carcinoma. Management should be based on the clinical and histopathological features. However, most of the patient underwent TURBT

Evolving sequence mutations in the Middle East Respiratory Syndrome Coronavirus (MERS-CoV)

Background: Middle East respiratory syndrome coronavirus (MERS-CoV) has continued to cause sporadic outbreaks of severe respiratory tract infection over the last 8 years. Methods: Complete genome sequencing using next-generation sequencing was performed for MERS-CoV isolates from cases that occurred in Riyadh between 2015 and 2019. Phylogenetic analysis and molecular mutational analysis were carried out to investigate disease severity. Results: A total of eight MERS-CoV isolates were subjected to complete genome sequencing. Phylogenetic analysis resulted in the assembly of 7/8 sequences within lineage 3 and one sequence within lineage 4 showing complex genomic recombination. The isolates contained a variety of unique amino acid substitutions in ORF1ab (41), the N protein (10), the S protein (9) and ORF4b (5). Conclusion: Our study shows that MERS-CoV is evolving. The emergence of new variants carries the potential for increased virulence and could impose a challenge to the global health system. We recommend the sequencing every new MERS-CoV isolate to observe the changes in the virus and relate them to clinical outcomes

Validation of the Arabic version of the Short Form Leed's Dyspepsia Index (SF-LDQ) amongst patients with type II diabetes

Since an unambiguous clinical definition of dyspepsia does not currently exist, the diagnosis is made on the basis of symptoms. For this purpose, a tool which is valid, reliable and convenient to use is needed that can accurately assess both frequency and severity of dyspepsia. Short-Form Leeds Dyspepsia Questionnaire meets all of these requirements and thus, has to be validated in native languages before it can be used to diagnose dyspepsia. We conducted a cross-sectional study at King Abdullah Bin Abdulaziz University Hospital (KAAUH) in Riyadh, Saudi Arabia. Adult patients with type II diabetes were recruited in the study after giving informed consent. A total of 245 patients were recruited in the study; 95 (38.8%) were males, while 149 (61.1%) were females. We found that 27.3% (n = 67) of the participants had dyspepsia according to the SF-LDQ Arabic version compared to 24.1% (n = 59) by physician's diagnosis. The Area Under the Curve was 0.86 (95% CI: 0.81–0.9). At a cut-off value of 7/32, the tool has a sensitivity of 69.49% and a specificity of 83.24%. In conclusion, The Short-Form Leeds Dyspepsia Questionnaire was found to be valid for assessment of frequency and severity of dyspepsia among Arab diabetes Type 2 patients

Demographic Characteristics and Status of Vaccinated Individuals with a History of COVID-19 Infection Pre- or Post-Vaccination: A Descriptive Study of a Nationally Representative Sample in Saudi Arabia

Background: Saudi Arabia expedited the approval of some COVID-19 vaccines and launched mass vaccination campaigns. The aim of this study was to describe the demographics of vaccinated COVID-19 cases and compare the mortality rates of COVID-19 cases who were infected post-vaccination in Saudi Arabia. Methods: This was a retrospective cohort study. We retrieved data for COVID-19 cases who were infected pre- or post-vaccination and had received at least one injection of the Oxford–AstraZeneca or Pfizer–BioNTech vaccine from 4 December 2020 to 15 October 2021. Results: The number of patients who were infected and had received at least one dose of a COVID-19 vaccine was 281,744. Approximately 45% of subjects were infected post-vaccination, and 75% of subjects had received the Pfizer–BioNTech vaccine. Only 0.342% of the patients who were infected post-vaccination died, and 447 patients were admitted to ICUs. Most of the patients who were infected with COVID-19 post-vaccination and were admitted to ICUs (69.84%) had received only one dose of the vaccine (p < 0.0001). The mean time to infection for patients who had received one and two doses of the Oxford–AstraZeneca vaccine were 27 and 8 days longer than their counterparts who had received one and two doses of Pfizer–BioNTech vaccine, respectively. No difference in the odds of mortality between the Pfizer–BioNTech and Oxford–AstraZeneca vaccines was found (OR = 1.121, 95% CI = [0.907–1.386], p-value = 0.291). Patients who had received two doses of the vaccine had significantly lower odds of mortality compared to those who had received one dose (p < 0.0001). Conclusions: Vaccines are vital in combating the COVID-19 pandemic. The results of this study show no difference between the Pfizer–BioNTech and Oxford–AstraZeneca vaccines in the rate of mortality. However, the number of vaccine doses was significantly associated with a lower risk of mortality. Future studies should examine the effectiveness of different COVID-19 vaccines using real-world data and more robust designs