IntroductionCoronary artery diseases (CAD) are the most common causes of death. Myocardial infarction (MI) is a complex multifactorial and the most severe type of CAD. Early onset MI in a first-degree relative could be defined as an independent risk factor for CAD. This study was performed to investigate the genetic cause of early onset familial CAD.Material and methodsIn this study, the genetic cause of familial CAD was investigated in patients with a family history of CAD who underwent angiography before the age of 50 years. The patients did not have any diagnostic criteria for familial hypercholesterolemia, diabetes, or obesity, and also they were not opium or alcohol users. Whole exome sequencing in probands was performed and mutation was confirmed by PCR and Sanger sequencing.ResultsIn our studied population, the c.501G>C (p.K167N) mutation in the OLR1 gene was identified in a family. Mutation was confirmed by PCR and Sanger sequencing in the homozygous state (GG) in patients. Healthy individuals in this family were heterozygous (GC) and homozygous (CC).ConclusionsThis finding suggests that the OLR1 gene could be a possible cause of early onset familial MI. Considering that parents of all affected individuals had a consanguineous marriage, it is important to perform carrier screening and genetic counseling in this family and their close relatives as a prevention strategy in populations at risk.
Peptic ulcer disease is a common illness, affecting a considerable number of people worldwide, and its occurrence can be influenced by environmental and genetic factors. Heat shock proteins (HSPs) function mostly as molecular chaperones, and are induced by various stresses. The A to G transition at position 1267 of the HSPA1B gene was shown to correlate with changes in the level of HSPA mRNA expression. Here, the relation between A1267G polymorphism of the HSPAIB gene and risk of peptic ulcer in the Iranian population was evaluated. One hundred subjects, who underwent gastroscopy, took part in the study. DNA samples extracted from the biopsy tissues were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). After gastroscopy, peptic ulcer was diagnosed for 50 patients; among them the distribution of AA/AB/BB genotypes was 10, 88 and 2%, respectively. As for the other 50 subjects (without peptic ulcer) included in the control group, the AA/AB/BB genotypes were identified as 40, 52 and 8%, respectively. A significant association was found between the HSPA1B genotype and peptic ulcer (6.76 OR; 95% CI, 2.26-20.2; p = 0.0006). Thus, the HSPA1B A1267G polymorphism may be a marker of susceptibility to peptic ulcer.
Background: Heparinized and saline solutions can prevent clot formation in arterial and central venous catheters. However, heparin can decrease the platelet count and induce thrombocytopenia. Patients undergoing cardiac surgeries are more likely to develop heparin-induced thrombocytopenia. Objectives: This study aimed to investigate the effect of heparinized and saline solutions of arterial and central venous catheters on complete blood count (CBC) after cardiac surgery. Methods: This randomized controlled trial was conducted on 100 participants. All subjects underwent cardiac surgery at Rajaie Cardiovascular, Medical, and Research Center, Tehran, Iran. Patients were randomly divided into two groups intervention (A) for whom heparinized normal saline solution was used to maintain central arterial and venous catheters, and control (B) for whom normal saline solution was used. The CBC of subjects was monitored for three days (before surgery and the first and second days after surgery). Results: In the present study, there were no significant differences between CBC, white blood cell differential count, prothrombin time, partial thromboplastin time (PTT), and international normalized ratio in groups A and B. However, we found significant differences in platelet count (P = 0.049), red blood cell count (P = 0.0001), hemoglobin (P = 0.0001), and hematocrit (P = 0.0001) between before surgery and the second day after surgery in group A. Platelet count (P = 0.027) and PTT (P = 0.0001) before and after surgery were significantly different in group B. Conclusions: According to the results of this study, normal saline solution catheters have fewer side effects and can be a suitable replacement for heparinized catheters.
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