Annals of Saudi medicine
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Annals of Saudi medicine · Jul 2020
Case ReportsA case of congenital Rett variant in a Chinese patient caused by a FOXG1 mutation.
Rett syndrome (RTT) is a severe progressive neurodevelopmental disease characterized by psychomotor regression. The FOXG1 gene is one of the pathogenic genes associated with the congenital Rett variant, which is less studied. Only a few Chinese patients with FOXG1 mutation have been reported. ⋯ It was a frameshift mutation resulting in alteration of the reading frames downstream of the mutation. SIMILAR CASES PUBLISHED: 10. CONFLICT OF INTEREST: None.
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Annals of Saudi medicine · Jul 2020
Observational StudyDoor-to-balloon time in the treatment of ST segment elevation myocardial infarction in a tertiary care center in Saudi Arabia.
Atherosclerotic heart disease is still a leading cause of mortality despite improvements in cardiovascular care. Percutaneous coronary intervention (PCI) is the recommended reperfusion therapy in acute ST-elevation myocardial infarction (STEMI), and the international guideline is to achieve a door-to-balloon (D2B) time within 90 minutes of patient arrival to an emergency department (ED). ⋯ None.
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Annals of Saudi medicine · Jul 2020
Meta AnalysisAssociations between human leukocyte antigen C locus polymorphism and psoriatic arthritis in populations of European and Middle Eastern descent: a meta-analysis.
Gene-disease association between human leukocyte antigen (HLA)-C locus polymorphism and psoriatic arthritis (PsA) remains controversial. ⋯ None.
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Annals of Saudi medicine · Jul 2020
Cystic fibrosis gene mutations and polymorphisms in Saudi men with infertility.
Some mutations of the cystic fibrosis transmembrane regulator (CFTR) gene may impair spermatogenesis or cause a congenital absence of the vas deferens that manifests as isolated male infertility. ⋯ None.