ABSTRACT
Alström syndrome is a genetic disease that impacts numerous systems in the human body. The symptoms can vary and appear gradually. Childhood obesity, heart disease (cardiomyopathy), abnormalities in vision, and hearing issues are the main symptoms of this disorder in children. Diabetes mellitus, hepatic issues, and renal dysfunction can all occur over time. Genetic alterations in the ALMS1 gene are the cause of Alström syndrome. It has an autosomal recessive inheritance pattern. We address the case of a Saudi woman in her 20s. She had been initially referred for type 2 diabetes, intellectual disability since early childhood, metabolic acidosis, and micrognathia; however, she also exhibited blindness, chronic kidney disease (CKD), and hearing loss, all of which are indicative of Alström syndrome. DNA testing showed that she has a homozygous pathogenic variant in the ALMS gene. Autosomal recessive Alström syndrome has been confirmed as a genetic diagnosis. No other clinically significant variations were found that are associated with the mentioned phenotype. By reporting this mutation, we hope to learn more about the genotypic range of the disease, particularly in the Saudi population. As each member of the family underwent genetic testing, we established a stringent follow-up schedule for our patient and her family.
ABSTRACT
INTRODUCTION: Deep vein thrombosis (DVT) is a medical disorder that arises when a coagulation of blood forms in a deep vein, entirely or partially blocking veins, and commonly affects the lower limb. The occurrence is fairly common worldwide and it is said to increase with age, with males being at a higher risk than females. OBJECTIVE: This study aims to determine the prevalence and risk factors of DVT among adult surgical patients in Aseer Central Hospital in the Aseer Region of Saudi Arabia. METHODS: This is a cross-sectional study involving 602 adult surgical patients hospitalized in the Aseer Central Hospital. Self-administered questionnaires were used to collect data from the respondents, and the data collected were analyzed using IBM SPSS Statistics for Windows, Version 24.0 (Released 2016; IBM Corp., Armonk, New York, United States). Statistical tests of association were used among the categorical variables. Association between variables was considered significant when p-value was less than 0.05. Binary logistic regression was performed to eliminate the effect of confounders in determining the risk factors for developing DVT among the respondents. RESULTS: The questionnaire response rate was 100%, with the mean age of the respondents being 44.2 ± 19.7 years. The prevalence of DVT was 7% (n=42). Obesity with adjusted OR (aOR) 17.9 (95%CI =5.39-59.18), hypertension with aOR 0.3 (95%CI =0.08-1.03), ischemic heart disease with aOR4.5 (95%CI =1.18-16.83), and orthopedics aOR 0.1 (95%CI=0.013-.240) were found to be independent risk factors for developing DVT among the respondents (p-value <=0.05). Other variables like diabetes, contraception, and pregnancy were not statistically associated with the development of DVT (p-value> 0.05) in these respondents. CONCLUSION: The findings of this study indicated a significantly low prevalence in comparison to Saudi Arabian research. Key risk factors included obesity (18x higher risk), ischemic heart disease, and hypertension. Surgery location, orthopedic cast, and Doppler ultrasound also influenced risk, while age and sex weren't significant predictors.
ABSTRACT
Discrete choice experiments (DCEs) are frequently used to estimate and forecast the behavior of an individual's choice. DCEs are based on stated preference; therefore, underlying experimental designs are required for this type of study. According to psychologists, DCE designs consist of a small number of choice sets with a limited size in the number of alternatives within a choice set to increase the response efficiency in the questionnaire. Even though algorithmic constructions (known as efficient designs) become quite common for practitioners, optimal designs (sometimes so-called orthogonal designs) continue to be used in choice experiment studies, particularly in the case that prior information about the extent of the population preference is not available. Various approaches have been developed to construct DCE designs with fewer choice sets. However, the question in many practitioners' minds is which techniques perform better (i.e. given small designs with high efficiency) in a given circumstance. In this paper and to address these concerns, we conducted an overview of the constructions of discrete choice experiments in the literature for models with only main effects. The various ways of constructing optimal and near-optimal designs were compared in terms of their ability to minimize the number of choice sets in the survey. Our findings shed light on the optimal sample sizes needed for efficient experimentation which then can help the researchers to design more effective experiments in this area.
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Objective To predict the risk of malignancy in category III of the Bethesda System for Reporting Thyroid Cytopathology "Atypia of Undetermined Significance/Follicular Lesion of Undetermined Significance (AUS/FLUS)" at King Abdulaziz Medical City, Riyadh, Saudi Arabia. It also intends to determine other possible contributing predictors of malignancy in thyroid nodules such as age, sex, and ultrasound (US) findings. Method This retrospectively designed study included 187 patients (mean age, 43.9 ± 14.1 years) with thyroid nodules, which were diagnosed as AUS/FLUS and all patients included had total thyroidectomy or lobectomy between January 2013 and December 2018 at King Abdulaziz Medical City in Riyadh, Saudi Arabia. The electronic medical records, US images, and final cytopathology and histopathology reports were reviewed and analyzed. Result The overall incidence of AUS/FLUS was (46.5%). Multivariate analysis of US features revealed that malignancy was significantly associated with nodules with irregular margins, microcalcification, multiple numbers (P < 0.001), and hypoechogenicity (P 0.04). Conclusion Despite the high rate of malignancy of nodules AUS/FLUS, it is still consistent with previously reported studies. The highly suspicious ultrasound features (irregular margins, microcalcification, multiple nodules, and hypoechogenicity) could be helpful in the diagnosis of thyroid cancer.
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OBJECTIVE: To explore the characteristics of Arabic websites with information on autism spectrum disorder (ASD). METHODS: The word autism in Arabic was entered into 2 popular search engines in September 2013 to locate the top 80 websites featuring the term. Websites were sorted using 10 characteristics, previously used to evaluate the characteristics of English websites with information on ASD. RESULTS: Most websites were registered using a .com top-level domain (69%), were an individual`s site, forum, or blog (44%), and were updated after September 2012 (60%); they contained images or texts that seemed to persuade viewers to purchase products (43%); they provided information with the name of author(s) (64%); they described the basic characteristics of ASD; and they promoted various types of treatments, most of which lack empirical support (63%). However, few websites contained information with references to peer review resources (3%) or a warning statement that such information should not replace the opinion of a qualified professional (8%). CONCLUSION: Internet users may not find Arabic websites to be reliable sources to obtain information on ASD. Given the increased use of the internet, creation of websites that contain trusted information on ASD could potentially aid parents in accessing available services, help them learn about empirically validated interventions, and enable them to advocate for their children`s rights.
