Annals of Saudi medicine
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Annals of Saudi medicine · Jan 2021
The value of repeating fine-needle aspiration for thyroid nodules.
Fine-needle aspiration (FNA) is an invaluable technique used in the evaluation of thyroid nodules. ⋯ None.
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Annals of Saudi medicine · Jan 2021
Prevalence of methylenetetrahydrofolate reductase gene polymorphisms (C677T, and A1298C) among Saudi children receiving dental treatment.
Methylenetetrahydrofolate reductase, the encoded by the MTHFR gene, plays a crucial role in converting the amino acid homocysteine to methionine. Two polymorphisms of the MTHFR gene, C677T and A1298C, reportedly reduce enzyme activity, resulting in hyperhomocysteinemia. Patients with C677T and A1298C polymorphisms may be at higher risk for developing abnormal hyperhomocysteinemia, which has been linked to catastrophic neurological including fatal outcomes. ⋯ None.
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Annals of Saudi medicine · Jan 2021
Case ReportsVon Willebrand disease type 2B with a novel mutation in the VWF gene.
We report a 38-year-old woman who presented with a subdural hematoma after minor facial trauma in a stressful situation. The laboratory data showed a subnormal platelet count (166×109/L), VWF:RCo activity was 45% and VWF:Ag was 53% with a VWF:RCo/VWF Ag ratio of 0.79. Hemostasis results and gene analysis revealed von Willebrand disease (VWD) type 2B with normal multimers and a novel mutation c.4136 G>T (R1379L), which appears to be a novel mutation of VWD type 2B that is mainly diagnosed with hypersensitivity to ristocetin and an hyperfixation of platelet Willebrand to a recombinant Gp1b. SIMILAR CASES PUBLISHED: None.
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Annals of Saudi medicine · Jan 2021
Bacillus Calmette-Guérin vaccine-related complications in children in Oman.
Bacillus Calmette-Guérin (BCG) vaccine-related complications are frequently observed in children in Oman. There are a few regional studies on BCG complications, but none from Oman. ⋯ None.
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Annals of Saudi medicine · Jan 2021
Sonographic measurements for spleen size in healthy Saudi children and correlation with body parameters.
Ultrasound is commonly the first-line imaging modality for assessing the visceral organ dimensions without any risk of radiation. An abnormal size of the spleen may indicate disease, but the evaluation is challenging because of the normal size changes with age. In addition, published normal value charts for children may vary by population and methods. ⋯ None.