Association of Genetic Variant FVIII Gene and Factor VIII: A Pilot Study Among Hemophilia A Female Relatives in Saudi Arabia.

Hemophilia A (HA) is an X-linked recessive disorder that results from mutations in the factor VIII gene (FVIII). Most affected patients are males due to the inheritance of mutations in the FVIII gene from their mothers. Females are mostly found to be carriers unless they inherited the mutation from both parents. Obligate carriers of HA are mothers whose sons are affected with HA, or daughters who inherit the mutation from their affected fathers. A possible carrier of HA could be any female who has one or more affected relatives with HA in her family. Hemophilia A carriers (HACs) could present with similar symptoms to affected patients, including low factor VIII level, and risk of bleeding especially after surgical procedures or postpartum hemorrhage. OBJECTIVES:  Assessing the phenotype of possible HAC and its association with genetic variants in the FVIII gene for better screening methods for HAC. METHODS: From the period between 25 June and 25 October 2021, the study was conducted at King Abdulaziz University Hospital in Jeddah, Saudi Arabia. We recruited seven mothers whose sons were affected with HA, and 18 possible HAC who are relatives to sever affected patients with HA. All 25 candidates were assessed for the FVIII level, activated partial thromboplastin time (APTT), and bleeding risk and sequenced a part of Exon14 in their FVIII gene. RESULTS: Twenty-five percent of the participants show a low level of FVIII, however, none of them have prolonged bleeding nor suffer from bleeding tendency. We also identified two missense variants in six of the candidates, but the clinical significance of these variants has not been determined previously. CONCLUSION: This pilot study is the first to explore the phenotype of several HAC in Saudi Arabia. A larger scale study with more HA patients and their female relatives is needed to understand the correlation between phenotype and genotype for better screening for HAC.

Characteristics and Outcomes of Liver Transplantation Recipients after Tranexamic Acid Treatment and Platelet Transfusion: A Retrospective Single-Centre Experience.

Background and Objectives: Patients undergoing liver transplantation (LT) often require increased blood product transfusion due to pre-existing coagulopathy and intraoperative fibrinolysis. Strategies to minimise intraoperative bleeding and subsequent blood product requirements include platelet transfusion and tranexamic acid (TXA). Prophylactic TXA administration has been shown to reduce bleeding and blood product requirements intraoperatively. However, its clinical use is still debated. The aim of this study was to report on a single-centre practice and analyse clinical characteristics and outcomes of LT recipients according to intraoperative treatment of TXA or platelet transfusion. Materials and Methods: This was a retrospective observational cohort study in which we reviewed 162 patients' records. Characteristics, intraoperative requirement of blood products, postoperative development of thrombosis and outcomes were compared between patients without or with intraoperative TXA treatment and without or with platelet transfusion. Results: Intraoperative treatment of TXA and platelets was 53% and 57.40%, respectively. Patients who required intraoperative administration of TXA or platelet transfusion also required more transfusion of blood products. Neither TXA nor platelet transfusion were associated with increased postoperative development of hepatic artery and portal vein thrombosis, 90-day mortality or graft loss. There was a significant increase in the median length of intensive care unit (ICU) stay in those who received platelet transfusion only (2.00 vs. 3.00 days; p = 0.021). Time to extubate was significantly different in both those who required TXA and platelet transfusion intraoperatively. Conclusions: Our analysis indicates that LT recipients still required copious intraoperative transfusion of blood products, despite the use of intraoperative TXA and platelets. Our findings have important implications for current transfusion practice in LT recipients and may guide clinicians to act upon these findings, which will support global efforts to encourage a wider use of TXA to reduce transfusion requirements, including platelets.

Effect of Obesity on Clinical Outcomes in COVID-19 Patients.

Background Obesity is a well-known risk factor for developing severe coronavirus disease 2019 (COVID-19). In this study, we sought to determine the relationship between obesity and poor outcomes in patients with COVID-19 patients at King Abdulaziz University Hospital (KAUH), Jeddah, Saudi Arabia. Methods We conducted a single-centered descriptive study of adult COVID-19 patients hospitalized between March 1 and December 31, 2020, at KAUH. Patients were classified according to body mass index (BMI) as overweight (BMI 25-29.9 kg/m2) or obese (BMI ≥30 kg/m2). The main outcomes were admission to the intensive care unit (ICU), intubation, and death. Results Data were analyzed from 300 COVID-19 patients. Most study participants were overweight (61.8%), and 38.2% were obese. The most significant comorbidities were diabetes (46.8%) and hypertension (41.9%). Both hospital mortality (10.4% for obese; 3.8% for overweight, p = 0.021) and intubation rates (34.6% for obese; 22.7% for overweight, p = 0.004) were significantly higher among obese patients than overweight patients. There was no significant difference in terms of ICU admission rate between both groups. However, intubation rates (34.6% for obese; 22.7% for overweight, p = 0.004) and hospital mortality (10.4% for obese; 3.8% for overweight, p = 0.021) were significantly higher among obese patients than overweight patients. Conclusions This study aimed to describe the effect of high BMI on the clinical outcome of COVID-19 patients in Saudi Arabia. Obesity is significantly correlated with poor clinical outcomes in COVID-19. It is also associated with higher mortality and the need for mechanical ventilation necessitating intensive care unit admission. Patients with higher BMI should be prioritized in the hospital setting, as they have a higher potential of developing severe COVID-19 complications and sequelae.

The Prevalence of Fibromyalgia Among Medical Students at King Abdulaziz University: A Cross-Sectional Study.

Background and objective Fibromyalgia (FM) is a chronic, multifactorial pain condition. The latest literature suggests that genetic and environmental factors including continuous stress contribute significantly to FM's pathophysiology. In this study, we aimed to investigate the prevalence of FM among medical students as they are considered a population significantly at risk of developing the condition. Methods This cross-sectional study was conducted at King Abdulaziz University. Medical students included in the study were recruited through a random stratified sampling method. A self-administered questionnaire was distributed to the participants; it included questions related to widespread pain index (WPI) and symptom severity scale (SSS) to assess the symptoms and diagnosis of FM, which were established based on the current diagnostic criteria. All first-year students were excluded from this research. Results A total of 450 participants were recruited for the study. Among them, 291 (64.7%) were females and 159 (35.3%) were males. Their ages ranged from 18 to 26 years, and the mean age was 21.52 years (SD: ±1.52). They came from different academic levels: 97 (21.6%) were in the second year, 79 (17.6%) were in the third year, 70 (15.6%) were in the fourth year, 99 (22%) were in the fifth year, and 105 (23.3%) were in the sixth year. The overall prevalence of FM was found to be 43 (9.6%). It was established based on the number of students who fulfilled the diagnostic criteria or were previously diagnosed with FM by a professional physician. Conclusion FM is highly prevalent among medical students. Our findings demonstrate the likelihood of the influence of medical school on causing the condition, as it has a stressful education system with high academic expectations. We recommend that this issue be seriously addressed since FM leads to a significant burden on the students and can negatively affect their future medical practice.