Evaluation of loss of heterozygosity of chromosome 22q11.21 region in patients with congenital heart diseases

The 22q11.21 region is prone to low-copy repeats events that lead to congenital anomaly disorders. We tested genomic DNA of 20 families with non-syndromic CHD patients using a set of three known consecutive high polymorphic short tandem repeat (STR) markers along the 22q11.21 region; D22S941, D22S944 and D22S264 loci. We found loss of heterozygosity (LOH) in D22S941 locus in 2 out of 20 families (10%) with 2 offspring affected by ASD combined with PS and TOF respectively. No LOH found in D22S944 and D22S264 loci either in affected cases or control group and no LOH found in D22S941 in the control group. Also we observed that D22S944 locus prone to be less allele diversity than D22S941 and D22S264 loci. Keywords: 22q11.21 Microdeletion, Congenital heart defects, STR marker

Changes in tryptophan and phenylalanine in chronic HCV patients treated with direct acting antiviral (sofosbuvir)

Abstract Background Chronic hepatitis C virus (HCV) infection represents a global public health challenge, and new drugs have been authorized for its treatment. The current study aimed to detect the change in blood levels of tryptophan and phenylalanine with the recent therapy direct-acting antiviral (sofosbuvir). Methods This case-controlled study was conducted on HCV patients including 40 treated with direct-acting antiviral (sofosbuvir), 40 untreated underestimations of full medical history, and laboratory tests involved ELISA assay and real-time (RT) PCR technique as well as measuring tryptophan and phenylalanine by HPLC-UV, in addition to 20 apparently healthy subjects served as a control group. Results There is a high statistical significant decrease in tryptophan and increase in phenylalanine in treated cases than untreated cases and control groups. This study showed that phenylalanine at the cutoff of 2.13 μg/ml had 96.9% sensitivity and 62.5% specificity among treated cases; also, tryptophan at the cutoff of 8.53 ng/ml had 81.2% sensitivity and 75% specificity to predict severe depression. There is a statistically significant increase in tryptophan and decrease in phenylalanine in mild/moderate than very severe depression. Conclusion Direct-acting antiviral (sofosbuvir) causes a decrease in tryptophan levels and increase in phenylalanine levels that as a result leading to depressive symptoms as adverse effects, so advising by dietary supplements of tryptophan for patients treated from chronic HCV by direct-acting antiviral (sofosbuvir)