Homozygous mutations in cytochrome b-245 chaperone 1 (CYBC1) have been recently described as causing recurrent infections and inflammatory disease an Icelandic cohort a patient from Saudi Arabia, by destabilising the dimerisation of gp91phox with p22phox, manifesting phenotypic chronic granulomatous (CGD). Haematopoietic stem cell transplantation is treatment choice CGD, though experience this ...

One of the great advances in medical technology has unwittingly spawned a serious threat to public health. Implanted medical devices, from cardiac stents to artificial hip joints, are commonly infected with biofilms, complex microbial communities that can prove remarkably resistant to host defenses and treatment. It appears, however, that biofilms, even those arising from the same microbe speci...

BACKGROUND The aortic valve dysfunction of patients with homozygous familial hypercholesterolemia (FH) suggests that hypercholesterolemia affects not only coronary arteries but also the aortic valve. We studied the aortic root of patients with homozygous FH and those of patients with heterozygous FH to characterize the premature atherosclerotic lesions by using histopathologic specimens. METH...

The Gilbert syndrome is a benign form of unconjugated hyperbilirubinemia, mainly associated with alterations in UGT1A1 gene. This work investigated the effect of UGT1A1 variants on total bilirubin levels in Gilbert patients (n=45) and healthy controls (n=161). Total bilirubin levels were determined using a colorimetric method; molecular analysis of exons 1-5 and two UGT1A1 promoter regions were...

Heparin cofactor II (HCII) is a specific inhibitor of thrombin in the presence of heparin or dermatan sulphate. Although there have been reports on families in which a heterozygous HCII deficiency is associated with thromboembolic events, several epidemiological studies revealed that heterozygous HCII deficiency is as prevalent among healthy subjects as it is among patients with deep venous thr...

Introduction: Since there has been a dearth of research on the assessment of CYP2C19 polymorphism in the east of Iran (Khorasan provinces), this study aimed to detect, CYP2C19*2 and CYP2C19*3 allele frequencies among patients with coronary artery disease. The participants were selected among those referring to Emam Reza Hospital, Mashhad, Iran. Furthermore, the current research was motivated to...