Saudi Med J
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Observational Study
Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.
To describe the clinical and molecular characteristics of patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. Methods: A retrospective observational cross-sectional analysis was conducted on all patients with VLCAD deficiency at (Genetic/Metabolic Section), Prince Sultan Military Medical City (PSMMC), Riyadh, Saudi Arabia from 2000 to 2019. Demographic, clinical, and laboratory data were abstracted from the electronic hospital records using a case report form. Results: A total of 14 children were analyzed. Six presented with hypoglycemia, 4 with cardiomyopathy, and 10 had rhabdomyolysis. ⋯ All patients were treated with medium-chain triglyceride and carnitine. Ten patients are alive and have normal development, while 4 died. Conclusion: Most of the patients in this cohort presented in the neonatal period either by newborn screening or clinically with hypoglycemia, cardiomyopathy, and rhabdomyolysis. The new molecular variants detected in this study broaden the genetic spectrum of VLCAD deficiency in Saudi Arabia.
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To determine the prevalence and types of complementary and alternative medicine (CAM) being utilized and the possible factors that prompted the use of CAM in patients with brain tumors. Methods: The study conducted was a questionnaire-based, cross-sectional study of patients diagnosed with brain tumors at King Abdulaziz University Hospital (KAUH), Jeddah, Saudi Arabia from January 2011 to May 2018. Patients with primary and secondary brain tumors, were included. Our questionnaire was conducted via phone interviews after obtaining patient consent. Results: A total of 72 patients were included. ⋯ Family members were the most frequent source of information about the use of CAM (81.6%). Conclusion: Education level has a significant effect on CAM use. Gender plays a role in the type of CAM used. Future research should focus on the adverse effects of some CAM therapies, how effective CAM therapies are, and the effect CAM may play in delaying patients from seeking medical advice.
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To determine the knowledge of primary healthcare (PHC) physicians and factors influencing implementation of the catch-up vaccination program in PHC clinics in Dammam, Saudi Arabia. Methods: A cross-sectional study was conducted with a sample of 136 general and family physicians between October 2018 and August 2019 in PHC clinics. A self-administered questionnaire related to knowledge, practices, and factors affecting their practices regarding vaccination was given to participants. Their responses were assessed for level of knowledge, practices regarding the vaccination program, and factors affecting their practices, and then compared between family and general physicians. Results: The majority of physicians (60%) surveyed had good knowledge of the catch-up vaccination program and no significant difference was observed between family and general physicians. ⋯ A statistically significant difference was observed between family and general physicians related to attending educational lectures and seeing children younger than 5 years. General physicians were more involved in the vaccination program. Conclusion: The overall knowledge and practices of the catch-up vaccination program was satisfactory among PHC physicians. However, a lack of family physicians' involvement in the vaccination program was observed that needs to be addressed in their training program.
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Immunoglobulin G4-related disease (IgG4-RD) is rare disease entity and has recently been recognized as an inflammatory disorder with the tendency to affect multiple organs. Pachymeningitis of spine caused by IgG4-related disease is extremely rare. ⋯ He was found to had pachymeningeal thickening on a cervical magnetic resonance image (MRI) and elevated serum IgG4 levels. He was treated with glucocorticoids and rituximab, which led to a significantly positive radiological response.
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To assess and enhance the efficiency of transfusion services in maternity hospitals. ⋯ The policy enhances the cost-effectiveness of erythrocyte transfusion and laboratory testing, and saves on additional, unnecessary costs.