ABSTRACT
Thromboembolism is known to be a multifactorial event that is impacted by various genetic and environmental factors. The genetics society's recommended name for this variant is c.*97G>A (this is the nomenclature we need to use in the patient report). However, people have been using legacy names c.20210G>A or G20210A (so these are common names). One of the most common genetic variants associated with inherited thrombophilias, F2 c.20210G>A is acknowledged to be a weak but significant risk factor for thromboembolism. However, its clinical presentation has been described as phenotypically heterogeneous. We present two rare cases with homozygous F2 c.20210G>A variant, one of which also carries a heterozygous variant in coagulation factor V gene F5, c.1601G>A (p.Arg534Gln; commonly known as factor V Leiden). We described the clinical courses of these two cases and discussed F2 c.20210G>A and factor V Leiden as genetic risk factors in thromboembolism, the role of provoking factors, such as surgery and malignancy, and the management of such patients.
ABSTRACT
Fifty-six of 182 (31%) children had indeterminate QuantiFERON assays. Indeterminate assays were associated with inpatient status [odds ratios (OR): 11.7, 95% confidence interval 3.9-34.9], but not with age, gender or medical comorbidities. This indicates that indeterminates may be due to specimen handling, and proper procedural training may be necessary to decrease indeterminate QuantiFERON results.
