Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia.

Von Willebrand factor (VWF) is a plasma glycoprotein that plays a key role in hemostasis. Mutations in this protein can result in von Willebrand disease (VWD), the most common form of bleeding disorder in humans. Patients with type 1 VWD have a quantitative plasmatic deficiency of normal structural and functional VWF. Our study aimed to investigate the phenotypic and genotypic characteristics of VWD type 1 patients in eastern Saudi Arabia, focusing on exon 28. We included patients previously diagnosed with WWD type 1 at the King Fahad teaching hospital in Al Khobar and their family members. The correlations between various phenotypic data and genotypic (exon 28) were analyzed using statistical software (SPSS) version 21. While these variants were generally considered benign with minor clinical effects, our analysis did identify two pathogenic variants that could lead to severe VWD symptoms. Specifically, we found these two pathogenic variants in three VWD patients from Saudi Arabia, providing essential insights into pathogenic VWD mutations in this population. Our study, therefore, sheds light on the prevalence of VWF variants in the eastern province of the Kingdom and highlights the need for continued research into the genetic causes of VWD in this region.

Comparative cross-sectional assessment of knowledge, attitude and practice among university students and employees towards the use of the microbiology laboratory equipment.

Background: Continuous evaluation of students and employee's knowledge and attitude in clinical laboratories is mandatory to ensure a high level of competency, proper practice and to assess the need for training, which shall be reflected on the quality of laboratory results. The aim of the present study was to evaluate the knowledge, attitude, and practice in microbiology laboratories among employees (at King Fahd Hospital of the University) and clinical laboratory students (at Imam Abdulrahman Bin Faisal University)    Methods: This was a cross-sectional survey of 30 2 nd year students, 26 3 rd year students, 24 4 th year students in the Clinical Laboratory Sciences department, and 30 employees. Participants completed a survey comprising 30 questions to assess their knowledge and attitude towards the use of equipment and practice in the microbiology laboratory. Results: The results indicated that there was no significant difference between the average scores of all levels of students regarding their knowledge (p = 0.85, 0.999, and 0.869), attitude (p = 0.883, 0.996, 0.853), and practice (p=0.633, 0.325, 0.858) in the microbiology laboratory. Employees scores (knowledge;5.03±2.646, attitude; 12.03±4.89, and practice; 7.7±6.11) were quite poor, as indicated by the lower average results than that of students (knowledge; 5.65±3.08, attitude; 13.25±5.33, and practice; 13.46±5.7). Conclusions: It is concluded that the knowledge, attitude, and practice of students and employees in the microbiology laboratory needs to be meticulously monitored and improved to ensure high achievement of learning outcomes and better overall performance in the laboratory. This may be achieved through using frequent quizzes and continuous education programs.