Clinical description and evaluation of 30 pediatric patients with ultra-rare diseases: A multicenter study with real-world data from Saudi Arabia.

BACKGROUND: With the advancement of next-generation sequencing, clinicians are now able to detect ultra-rare mutations that are barely encountered by the majority of physicians. Ultra-rare and rare diseases cumulatively acquire a prevalence equivalent to type 2 diabetes with 80% being genetic in origin and more prevalent among high consanguinity communities including Saudi Arabia. The challenge of these diseases is the ability to predict their prevalence and define clear phenotypic features. METHODS: This is a non-interventional retrospective multicenter study. We included pediatric patients with a pathogenic variant designated as ultra-rare according to the National Institute for Clinical Excellence's criteria. Demographic, clinical, laboratory, and radiological data of all patients were collected and analyzed using multinomial regression models. RESULTS: We included 30 patients. Their mean age of diagnosis was 16.77 months (range 3-96 months) and their current age was 8.83 years (range = 2-15 years). Eleven patients were females and 19 were males. The majority were of Arab ethnicity (96.77%). Twelve patients were West-Saudis and 8 patients were South-Saudis. SCN1A mutation was reported among 19 patients. Other mutations included SZT2, ROGDI, PRF1, ATP1A3, and SHANK3. The heterozygous mutation was reported among 67.86%. Twenty-nine patients experienced seizures with GTC being the most frequently reported semiology. The mean response to ASMs was 45.50% (range 0-100%). CONCLUSION: The results suggest that ultra-rare diseases must be viewed as a distinct category from rare diseases with potential demographic and clinical hallmarks. Additional objective and descriptive criteria to detect such cases are needed.

Effect of Tranexamic Acid on the Reduction of Blood Loss in Craniosynostosis Surgery: A Systematic Review and Meta-analysis.

Although many published studies have investigated the benefits of tranexamic acid (TXA) in reducing perioperative bleeding, no large meta-analysis has been conducted to demonstrate its overall benefit. Methods: A systematic review was performed by following the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines. PubMed, Cochrane, Ovid, Embase, Web of Science, ClinicalTraisl.Gov, and Scopus databases were searched for articles reporting the benefit of TXA in reducing perioperative bleeding in craniosynostosis surgery from establishment through October 2022. The results of our meta-analysis were pooled across the studies using a random-effects model, and presented as a weighted mean difference with 95% confidence interval (95% CI). Results: The database search yielded 3207 articles, of which 27 studies with a corresponding number of 9696 operations were eligible. The meta-analysis included only 18 studies, accounting for 1564 operations. Of those operations, 882 patients received systemic TXA, whereas 682 patients received placebo (normal saline), no intervention, low dose TXA, or other control substances. This meta-analysis demonstrated a significant beneficial effect of TXA in reducing perioperative bleeding, particularly when compared with other controlled substances, with a weighted mean difference of -3.97 (95% CI = -5.29 to -2.28). Conclusions: To our knowledge, this is the largest meta-analysis in the literature investigating the benefit of TXA in reducing perioperative blood loss in craniosynostosis surgery. We encourage implementing TXA-protocol systems in hospitals after the appraisal of the data presented in this study.

Describing the Myths and Misconceptions Regarding COVID-19 Vaccines Among the Population of the Kingdom of Saudi Arabia.

Objectives This study aims to describe the common myths and misconceptions in addition to the perception and attitudes toward coronavirus disease 2019 (COVID-19) vaccines in the Saudi Arabian community. Methods This is a cross-sectional study that included adults (18 years and older) residing in the Kingdom of Saudi Arabia. Participants were asked to complete an online survey that evaluated their perception and attitudes toward the available COVID-19 vaccines in Saudi Arabia. Statistical comparison between two groups and more was done using chi-square, independent t-test, and one-way ANOVA. Results A total of 471 responses were analyzed with a majority (83.2%) believing that vaccinations are important. The vaccine preferred among the Saudi Arabian population was Pfizer (65.4%). More than half of our respondents (54.8%) strongly agreed that COVID-19 vaccines can reduce the severity of the COVID-19 infection. Respondents in the healthcare sector were significantly more likely to have a more positive view on vaccines compared to those in non-healthcare sectors (p < 0.001). Conclusion The Saudi Arabian population has shown substantial awareness about COVID-19 vaccines; however, public health officials need to further increase awareness measures on COVID-19 vaccines to limit myths and misconceptions, especially among certain populations that are more prone to it.

Evaluation of COVID-19 myths in Saudi Arabia.

OBJECTIVES: To examine the awareness level of COVID-19 and to highlight the frequency of myths and misconceptions among Saudi Arabia's population. METHODS: We conducted a cross-sectional study from June 13 to 20, 2020 by distributing a 16-item online Google forms questionnaire among adults (18-65 years old) living in Saudi Arabia. We utilized the convenience sampling. Data analysis was performed using Chi-square and multiple regression analysis on Jamovi. RESULTS: A total of 1436 responses were analyzed with 43.5% males and 56.5% females. Most respondents (89.1%) thought that only the elderly above 60 years old are considered at high risk of contracting COVID-19. Most respondents (86.5%) agreed that people with other health conditions could be more affected by COVID-19. Approximately 97.2% agreed that wearing a mask and avoiding touching eyes, nose, and mouth with unwashed hands was the leading preventive action. Most participants (99.4%) chose fever as an associated symptom. Respondents from the healthcare sector presented statistically higher scores than those in non-healthcare sectors (p<0.001). Higher education and higher salary were important predictors of better COVID-19 knowledge. CONCLUSION: Public health officials need to increase awareness measures on COVID-19 to limit myths and misconceptions and reduce psychological distress associated with it.