Mohammed Almansori

Intronic Polymorphisms in the CDKN2B-AS1 Gene Are Strongly Associated with the Risk of Myocardial Infarction and Coronary Artery Disease in the Saudi Population

Recent genome-wide association studies identified single nucleotide polymorphisms (SNPs) on the chromosome 9p21.3 conferring the risk for CAD (coronary artery disease) in individuals of Caucasian ancestry. We performed a genetic association study to investigate the effect of 12 candidate SNPs within 9p21.3 locus on the risk of CAD in the Saudi population of the Eastern Province of Saudi Arabia. A total of 250 Saudi CAD patients who had experienced an myocardial infarction (MI) and 252 Saudi age-matched healthy controls were genotyped using TaqMan assay. Controls with evidenced lack of CAD provided 90% of statistical power at the type I error rate of 0.05. Five percent of the results were rechecked for quality control using Sanger sequencing, the results of which concurred with the TaqMan genotyping results. Association analysis of 12 SNPs indicated a significant difference in the genotype distribution for four SNPs between cases and controls (rs564398 p = 0.0315, χ2 = 4.6, odds ratio (OD) = 1.5; rs4977574 p = 0.0336, χ2 = 4.5, OD = 1.4; rs2891168 p = 1.85 × 10 − 10, χ2 = 40.6, OD = 2.1 and rs1333042 p = 5.14 × 10 − 9, χ2 = 34.1, OD = 2.2). The study identified three protective haplotypes (TAAG p = 1.00 × 10 − 4; AGTA p = 0.022 and GGGCC p = 0.0175) and a risk haplotype (TGGA p = 2.86 × 10 − 10) for the development of CAD. This study is in line with others that indicated that the SNPs located in the intronic region of the CDKN2B-AS1 gene are associated with CAD.

The impact of common polymorphisms in CETP and ABCA1 genes with the risk of coronary artery disease in Saudi Arabians

BackgroundCoronary artery disease (CAD) is a leading cause of morbidity and mortality worldwide. Many genetic and environmental risk factors including atherogenic dyslipidemia contribute towards the development of CAD. Functionally relevant mutations in the dyslipidemia-related genes and enzymes involved in the reverse cholesterol transport system are associated with CAD and contribute to increased susceptibility of myocardial infarction (MI).MethodBlood samples from 990 angiographically confirmed Saudi CAD patients with at least one event of myocardial infarction were collected between 2012 and 2014. A total of 618 Saudi controls with no history or family history of CAD participated in the study. Four polymorphisms, rs2230806, rs2066715 (ABCA1), rs5882, and rs708272 (CETP), were genotyped using TaqMan Assay.ResultsCETP rs5882 (OR = 1.45, P < 0.005) and ABCA1 rs2230806 (OR = 1.42, P = 0.017) polymorphisms were associated with increased risk of CAD. However, rs708272 polymorphism showed protective effect (B1 vs. B2: OR = 0.80, P = 0.003 and B2B2 vs. B1B1: OR = 0.68, P = 0.012) while the ABCA1 variant rs2066715 was not associated.ConclusionThis study is the first to report the association of these polymorphisms with CAD in the population of the Eastern Province of Saudi Arabia. The rs5882 polymorphism (CETP) showed a significant association and therefore could be a promising marker for CAD risk estimation while the rs708272 polymorphism had a protective effect from CAD.

Investigation of KIF6 Trp719Arg gene polymorphism in a case-control study of coronary artery disease and non-fatal myocardial infarction in the Eastern Province of Saudi Arabia.

BACKGROUND Kinesin-like protein 6 (KIF6), a member of the kinesin superfamily, is involved in intracellular transport. A few prospective studies have shown the KIF6 variant Trp719Arg (rs20455) to be associated with coronary artery disease (CAD) in Caucasian populations. However, recent genome-wide association studies on CAD have not proven these associations. OBJECTIVES Since the role of KIF6 719Arg allele in other ethnic populations is largely unknown, we sought to determine whether the KIF6 719Arg allele is associated with CAD in an ethnic population of Saudi Arabia. DESIGN Case-control study. SETTING CAD patients and control subjects from King Fahd Hospital of the University, Al-Khobar, Saudi Arabia. PATIENTS AND METHODS The study population included angiographically defined CAD patients (n=1002) and controls (n=984) with a normal electrocardiogram. MAIN OUTCOME MEASURE(S) Association of KIF6 Trp719Arg mutation with CAD. RESULTS The KIF6 Trp719Arg polymorphism was not associated with CAD (OR 0.976, 95% CI 0.861–1.105; P=.704). In addition, KIF6 Trp719Arg polymorphism showed a lack of association even in stratified myocardial infarction patients (n=802) (OR 1.006, 95% CI 0.881–1.148; P=.929) in comparison to controls. CONCLUSIONS The absence of Trp719Arg polymorphism association with CAD and CAD in stratified myocardial infarction cases indicates that the polymorphism is not associated with an increased risk among CAD patients from the Eastern Province of Saudi Arabia. Further studies in different provinces are required to unravel biological mechanisms underlying CAD in patients from Saudi Arabia. LIMITATIONS Unavailability of data on statin usage among the patient population.

Coronary artery ectasia - A sample from Saudi Arabia

Introduction Coronary artery ectasia is an uncommon disease that has been increasingly noticed as the increase in utilization of coronary angiograms. The aim of this study is to characterize coronary artery ectasia in the population of Saudi Arabia. Methods This is a retrospective study involved all patient with invasive coronary angiogram that was done at a tertiary hospital in Saudi Arabia from January 2011 to December 2013. Results A total of 1115 coronary angiograms were reviewed. Coronary artery ectasia was found in 67 patients (6% of all coronary angiograms). The right coronary artery was involved in 73% of cases. And 43% of the cases had severe ectasia. Conclusion The prevalence of coronary artery ectasia in Saudi Arabia among patient who went for coronary angiography is higher than what has been published in previous studies and a significant number of patients have severe disease.

A heart on the wrong side

A 49-year-old female presented with pneumonia. On examination, heart sounds were heard on the right side of the chest, resulting in an initial impression of dextrocardia. Chest X-ray (Fig. 1) and echocardiography demonstrated dextro-position of the heart with no associated congenital anomalies. Subsequently, computed tomography of the chest was performed, revealing an absence of a right lung parenchyma with abrupt termination of right main bronchus after bifurcation of the carina, and a shift of the heart to the right side as shown in Fig. 2. No other congenital anomalies were detected. Figure 1 Chest X-ray of the chest showing possible dextrocardia. Figure 2 Computed tomographic scan of the chest showing agenesis of the right lung with dextro-position of the heart. The left lung has an area of consolidation and a large pleural effusion.

Paracetamol overdose: Analysis of a sample from a tertiary hospital in Eastern Saudi Arabia

Background: Paracetamol overdose is common and has such serious consequences as hepatic toxicity. The aim of this study was to characterize patients in a sample from the Kingdom of Saudi Arabia (KSA) with paracetamol overdose. Materials and Methods: Retrospective chart review (July 1997 to December 2012) for all patients above the age of 18 years with the diagnosis of paracetamol overdose at a university hospital. Results: A total of 86 patients with paracetamol overdose were analyzed, about 70% of these patients were young females. 80% were attempts at suicide. 56% of the patients received N-acetylcysteine. Two patients developed hepatic toxicity. There were no mortalities and the average hospital stay was 4.8 ± 4.9 days. Conclusion: Paracetamol overdose is frequently seen in young females attempting suicide. In KSA, it tends to have a low rate of hepatic toxicity.

Comparison of echocardiographic parameters among patients with pulmonary hypertension treated with statin and those without

Introduction: Pulmonary hypertension is a progressive disease where endothelial dysfunction plays an important role in its etiology. Statins have been considered a therapeutic option for pulmonary hypertension due to their pleiotropic effects. Materials and Methods: We investigated the association between statin use and echocardiographic parameters in 73 patients with pulmonary hypertension (23 patients were on statin and 50 patients were not taking statin). Results: Our study showed no association between statin use and different echocardiographic parameters used to evaluation pulmonary hypertension though there was a trend toward less right ventricular dilatation favoring the statin group (25.20 ± 14.7 mm vs. 29.7 ± 9.5) with a P = 0.052. Conclusion: We observed noassociation between statin use and echocardiographic findings in patients with pulmonary hypertension. A larger scale studies are need to confirm our findings.

Reply to "Congenital right lung hypoplasia associated with dextrocardia".

We thank Dr. Saeed and his group for their interest in our case and their thoughtful comments. We do agree about the discrepancy between the case we have presented and the chest X-ray findings illustrated by Dr. Saeed and his group. This happened because we uploaded an incorrect file, which was overlooked by us. We do apologies for that and we include the correct chest X-ray (Fig. 1) that shows the classical findings seen in lung agenesis. Finally, we believe that dextroposition is a cardiac displacement that consists of a right ward swing along the frontal plane caused by extra cardiac forces, while true dextrocardia is a developmental error. Figure 1 Chest X-ray showing hyperopacity of the right hemithorax with elevated right hemidiaphragm, hyperinflation of the left lung and right side deviation of the trachea and mediastinum. Also, there is a left side pneumonic infiltrates.

Comparison between intra-venous versus intra-arterial heparin during transradial coronary artery catheterization.

BACKGROUND Trans-radial coronary artery catheterization is gaining popularity, heparin has been proven to reduce the rate of radial artery occlusion, intra-venous or intra-arterial heparin have no effect on the radial artery occlusion, we investigate the effect of route of heparin administration on different procedure related parameters. METHODS We randomized 150 consecutive patients to receive intra-venous (75 patients) or intra-arterial (75 patients) heparin; the two groups were compared regarding different procedure related parameters. RESULTS The success rate was over 99% and rate of radial artery spasm was about 5%. There was no statistically significant difference between the two groups regarding the parameters tested. CONCLUSION The trans-radial angiography can be performed successfully in the Saudi population, Studies with larger sample size are needed to show a significant difference between intra-arterial and intra-venous heparin administration.

Giant coronary artery fistula.

Giant coronary artery fistula is rare. We describe the diagnostic work-up and surgical management of a 55-year-old woman who presented with congestive heart failure caused by a giant coronary artery fistula from the left circumflex artery to the coronary sinus.