Although they are implicated on their own as risk factors for cardiovascular disease, the potential link between nitric oxide (NO) deficiency, ANG II, and vascular stiffening has not been tested before. We evaluated the role of chronic ANG II treatment and NO deficiency, alone and in combination, on aortic stiffness in mice and tested parameters contributing to increases in active or passive co...

Regulation of MHC class II gene expression is an essential aspect of the control of the immune response. Primary MHC class II deficiency is a genetically heterogeneous disease of gene regulation that offers the unique opportunity of a genetic approach for the identification of the functionally relevant regulatory genes and factors. Most patients exhibit a characteristic defect in the binding of...

BACKGROUND/AIMS Glycogen storage disease type II (GSD-II) is a lysosomal disorder caused by acid α glucosidase (GAA) deficiency. The infantile form is easier to recognize compared with the milder adult form that may manifest as myopathy without specific clinical characteristics. The aim of this study is to highlight frequent diagnostic errors in adult GSD-II patients. CASE REPORTS We report f...

OBJECTIVE The renin-angiotensin system contributes to atherosclerotic lesion formation. Angiotensin-converting enzyme 2 (ACE2) catabolizes angiotensin II (Ang II) to angiotensin 1-7 (Ang-(1-7)) to limit effects of the renin-angiotensin system. The purpose of this study was to define the role of ACE2 in atherosclerosis. METHODS AND RESULTS Male Ace2(-/y) mice in an low-density lipoprotein rece...

sixty-six children with g6pd deficiency were evaluated retrospectively to ascertain the clinical features, etiology, ultimate outcome and population at risk, the occurrence of jaundice in 18 neonates (group j) was, contrary to other countries, in the form of neonatal jaundice type ii. sepsis, prematurity, hypoxia and acidosis were associating factors. 77.8% of neonates had exchange blood transf...

Two variants of a genetic deficiency of complement protein C2 (C2D) have been previously identified. No C2 protein translation is detected in type I deficiency, while type II deficiency is characterized by a selective block in C2 secretion. Type I C2 deficiency was described in a family in which the C2 null allele (C2Q0) is associated with the major histocompatibility haplotype/complotype HLA-A...

Patients with coumarin induced skin necrosis presents with painful purpura and erythematous bluish swelling of the skin complicated by blister formation, hemorrhage and immanent gangrene. Coumarin induced hemorrhagic skin necrosis occurs within one week after initiation of coumarin treatment at time of prolonged INR caused by an imbalance within the vitamin K dependent anticoagulant and procoag...

Background: Glucose-6-Phosphate dehydrogenase (G6PD) deficiency is an Xlinked recessive disorder expressed mostly in males. Prevalence of G6PD deficiency varies in different parts of the world’s according to ethnic variation. The incidence varies among different countries in the world and surveys report rates of less than 1% to 35%. The prevalence of G6PD deficiency in the Arab world has variou...