Association of the -757T>C polymorphism in the CRP gene with circulating C-reactive protein levels and carotid atherosclerosis

Introduction

C-reactive protein (CRP) is an inflammatory protein that may play a role in the pathogenesis of atherosclerosis. CRP gene single nucleotide polymorphisms (SNPs) have been shown to be associated with CRP concentration; however, their independent effect on atherosclerosis has not been yet established. We aimed to determine whether the 5′-flanking -757T>C CRP gene polymorphism is associated with CRP concentration and carotid atherosclerosis.

Methods

We genotyped the -757T>C CRP gene SNP and determined the concentration of serum CRP, the intima-media thickness (IMT) of the common carotid artery and the existence of plaque/s in 612 apparently healthy men and women aged 66 ± 10 years.

Results

Carriers of the CRP -757C allele presented with higher IMT and higher CRP concentrations (p = 0.002, p = 0.042, respectively). After adjustment for vascular risk factors, linear regression analysis showed an independent effect of CRP -757C allele on carotid IMT, beyond serum CRP concentrations. This SNP was also associated with carotid plaque occurrence (O.R. 1.74, 95% CI 1.1-2.77, p = 0.002).

Conclusions

The present study provides evidence that a genetic variant of CRP gene is associated with carotid atherosclerosis, independently of traditional vascular risk factors. Further large-scale genomic studies are required, which may identify the genetic vulnerable subjects to develop atherosclerosis.     

Deletion of 8p: a report of a child with normal intelligence

The case is presented of a female infant with a distal deletion of 8p (8p23.1-->pter) whose development was monitored over a 5-year period from 12 months of age. Although previous literature has suggested that 8p deletion is associated with mild to moderate intellectual disability, the child reported here has normal intelligence. Despite initial delays in gross motor and language skills, cognitive development (assessed with the Bayley Scales of Infant Development) and intellectual ability (measured on the Stanford-Binet Intelligence Scale) were within average range. It is argued that the small number of previous case reports may have created a misleading impression of intellectual development in individuals with distal deletions of 8p.     

Information Processing Biases in the Brain: Implications for Decision-Making and Self-Governance

To make behavioral choices that are in line with our goals and our moral beliefs, we need to gather and consider information about our current situation. Most information present in our environment is not relevant to the choices we need or would want to make and thus could interfere with our ability to behave in ways that reflect our underlying values. Certain sources of information could even lead us to make choices we later regret, and thus it would be beneficial to be able to ignore that information. Our ability to exert successful self-governance depends on our ability to attend to sources of information that we deem important to our decision-making processes. We generally assume that, at any moment, we have the ability to choose what we pay attention to. However, recent research indicates that what we pay attention to is influenced by our prior experiences, including reward history and past successes and failures, even when we are not aware of this history. Even momentary distractions can cause us to miss or discount information that should have a greater influence on our decisions given our values. Such biases in attention thus raise questions about the degree to which the choices that we make may be poorly informed and not truly reflect our ability to otherwise exert self-governance.     

Influences of parents,close friends and classmates on four co-existing oral health practices in Saudi male teenagers

Objective: The objective of this study is to investigate the association between oral health practices and similar practices adopted by parents, close friends and classmates in a group of Saudi male teenagers.

Material and methods: A cross-sectional study was conducted in Dammam, Saudi Arabia, in 2016 including 12–14-year-old intermediate school students (n?=?478). A questionnaire assessed socioeconomic background, whether participants, their parents, close friends and classmates brushed twice daily, used tobacco, snacked on sugary foods or sugary drinks and perceiving a supportive classroom environment. Univariate and multivariate logistic regression models assessed the association of parents’, close friends’, classmates’ practices and classroom support with participants’ four practices, controlling for socioeconomic factors.

Results: The response rate was 93.9%. In multivariate regression, close friends’ practices had a strong significant association with teenagers’ tooth brushing (OR?=?4.45; 95%CI?=?1.09, 18.12), tobacco use (OR?=?5.63; 95%CI?=?3.44, 7.88), snacking on sugary foods (OR?=?14.42; 95%CI?=?7.89, 21.89) and sugary drinks (OR?=?7.05; 95%CI?=?5.97, 9.20). The percentages of classmates perceived to brush their teeth and use tobacco were significantly associated with the respective practices in teenagers (OR?=?1.03 and 1.02). Fathers’ snacking on sugary drinks was significantly associated with that of the teenagers (OR?=?4.04; 95%CI=?1.03, 15.85).

Conclusions: In early adolescence, four oral health practices of Saudi males were associated with those perceived to be adopted by their close friends. Fathers’ use of sugary drinks was also significantly associated with that of teenagers.     

Tsukamurella tyrosinosolvens and Rhizobium radiobacter sepsis presenting with septic pulmonary emboli

Septic pulmonary embolism (SPE) is an uncommon, but life-threatening event that is usually associated with extrapulmonary infections. We report the first case of bilateral SPE secondary to a central venous catheter-related bloodstream infection involving pathogens commonly considered environmental contaminants: Tsukamurella tyrosinosolvens and Rhizobium radiobacter. Empirical levofloxacin treatment was confirmed by in vitro susceptibility data and produced prompt clinical improvement, but removal of the infected line proved indispensable for eradication of the infection. Laboratory personnel should be aware of the pathogenic potential of these environmental organisms, particularly in immunocompromised hosts with indwelling catheters.     

Alternative therapies for musculoskeletal conditions

The use of complementary and alternative medicine is complex and nuanced. Patterns of use of complementary and alternative medicine differ among racially and ethnically different groups. Multivariate models of utilization indicate that ethnicity plays an independent role in the implementation of these modalities, in seeking practitioners and in health problems for which assistance is required. Moreover, there are many reasons why people use complementary and alternative medicine: conventional treatment may not be working as well as they would like; they want greater relief of symptoms and/or disability; they have issues with side-effects of pharmaceutical treatment; they wish to reduce some of the stress that comes from living with a chronic illness and want to cope better; they believe that complementary and alternative therapies are safer and 'natural'; and they are influenced by the widespread advertising and attractive claims that are made for many natural products. Although there are more than 150 different kinds of syndromes and conditions associated with arthritis, this review will focus on currently available evidence-based medicine for the two most common conditions diagnosed in Western countries - osteoarthritis and rheumatoid arthritis - for which people seek and then implement complementary and alternative medicine modalitites.     

Genetics 101 for Cardiologists: Rare Genetic Variants and Monogenic Cardiovascular Disease

Monogenic diseases have a distinctive familial inheritance that follows Mendel's laws, showing patterns like dominant, recessive, or X-linked. There are > 7000 monogenic diseases curated in databases, and together they account for up to 10% of all illnesses encountered in the emergency room or clinic. Despite the rarity of individual monogenic conditions, mapping their causative genes and mutations is important for several reasons. First, knowing the causative gene and mutation could provide actionable information for genetic counselling. Sometimes, knowing the gene and mutation allows for early diagnosis in affected families, which is important if there is an evidence-based intervention. Second, the implication of a mutant gene as being causative for a clinical phenotype provides strong evidence of the importance of the gene product in a cellular or biochemical pathway. Discovery of new molecular pathways in families with rare diseases can serve as the first step toward developing rational therapies to help not only affected families, but also patients with less extreme, nongenetic forms of the same condition. For instance, the study of rare patients with familial hypercholesterolemia helped in developing statin drugs, initially as a treatment for familial hypercholesterolemia but now a widely used therapy to reduce low-density lipoprotein cholesterol and cardiovascular disease risk.     

P2X7 receptor gene polymorphism analysis in rheumatoid arthritis

The P2X7 receptor, a member of the P2X family of nucleotide‐gated channels, is predominantly expressed by monocytic cells. The activation of this receptor has been associated with downstream‐signalling cascades, resulting in the release of a number of inflammatory mediators. There are more than 815 single nucleotide polymorphisms (SNPs) that have been described in the human P2X7R gene, but only few have been functionally characterized. The main aim of this study is to determine whether P2X7R gene polymorphisms confer susceptibility to rheumatoid arthritis (RA). A total of 125 patients with RA and 158 healthy volunteers were enrolled in this study. DNA fragment was PCR amplified and sequenced on the AB 3130 Genetic Analyzer. No significant difference in allele frequencies of 489 C→T, 1096 C→G and 1513 A→C polymorphisms, among sporadic cases of RA and healthy controls was found. However, the 1513A/C genotype was significantly associated with the presence of rheumatoid factor and anti‐MCV autoantibody in RA patients. Interestingly, the genotype frequency of 1068 A/A was 0.19 in the RA group and 0.09 in control group (P = 0.025). Consequently, this polymorphism (AA) is two folds greater in the RA group compared to controls. Moreover, this polymorphism was significantly associated with mean concentration of C‐reactive protein in RA patients. In contrast, 946G→A and 1729 T→A were not detected in both groups. As a result, these two polymorphisms are uncommon in Omani Arab population. Polymorphism at position 1068 and 1513 in the P2X7R gene might contribute to the pathogenesis of RA. Moreover, the loss‐of‐function SNP at position 1096 C→G or the gain‐of‐function SNP at position 489 C→T of the P2X7 gene does not appear to be a susceptibility gene locus for the development of RA. Further studies are required to confirm this finding.     

Congenital absence of the portal vein in a middle-aged man

Congenital absence of the portal vein with systemic diversion of mesenteric blood is extremely rare. We report a case of a congenital absence of the portal vein, accidentally discovered in a 59-year-old man, completely asymptomatic and not associated with other malformations or biochemical disorders. Ultrasonography imaging showed the absence of the portal vein and the distal tract of superior mesenteric and splenic veins draining together into a dilated left renal vein. Computed tomography and magnetic resonance confirmed the presence of a congenital portosystemic venous shunt and also revealed two hepatic arteries: one arising from the celiac trunk and the other from the superior mesenteric artery.