Internal jugular access using pocket ultrasound in a simulated model: comparison between biplane and monoplane visualization techniques.

INTRODUCTION: Ultrasound is the current standard for central venous access due to its advantages in efficiency and safety. In-plane and out-of-plane visualization techniques are commonly used, but there is no clear evidence showing an advantage of one technique over the other. The objective of this study was to compare the success and time required for biplane visualization vs. in-plane and out-of-plane techniques in simulated models. METHODOLOGY: Ten emergency medicine specialists participated in 60 simulated events, with randomization of the visualization technique for each event. Each event required intravenous cannulation of a simulated model for jugular venous access, with a maximum of three attempts allowed. The number of attempts required for each event, success of puncture and venous cannulation, frequency of redirection and puncture of the posterior wall, time required to obtain an optimal window, visualize the needle inside the vessel, and passage of the guidewire were recorded. The success ratios and times required for each visualization technique (biplane, in-plane, and out-of-plane) were compared. RESULTS: Cannulation success rate was 100% for all three techniques. Success on the first attempt was 95% for biplane visualization vs. 100% for in-plane and out-of-plane. The median total time for the procedure was higher for biplane visualization (29.9 s) compared to in-plane (25.2 s) and out-of-plane (29 s), but this difference was not statistically significant (p = 0.999). There were no significant differences in cannulation success, needle redirection, or posterior wall puncture frequency between biplane visualization and in-plane and out-of-plane techniques. CONCLUSIONS: This study suggests that biplane visualization with the use of pocket ultrasound for internal jugular cannulation in simulated models did not demonstrate significant differences when compared with in-plane and out-of-plane visualization techniques. Further research with larger sample sizes may be needed to confirm these results.

A Pharmacogenetic Study of CYP2C19 in Acute Coronary Syndrome Patients of Colombian Origin Reveals New Polymorphisms Potentially Related to Clopidogrel Therapy.

Clopidogrel, an oral platelet P2Y12 receptor blocker, is used in the treatment of acute coronary syndrome. Interindividual variability in treatment response and the occurrence of adverse effects has been attributed to genetic variants in CYP2C19. The analysis of relevant pharmacogenes in ethnically heterogeneous and poorly studied populations contributes to the implementation of personalized medicine. We analyzed the coding and regulatory regions of CYP2C19 in 166 patients with acute coronary syndrome (ACS) treated with clopidogrel. The allele frequencies of CYP2C19 alleles *1, *2, *4, *17, *27 and *33 alleles were 86.1%, 7.2%, 0.3%, 10.2%, 0.3% and 0.3%, respectively. A new potentially pathogenic mutation (p.L15H) and five intronic variants with potential splicing effects were detected. In 14.4% of the patients, a new haplotype in strong linkage disequilibrium was identified. The clinical outcome indicated that 13.5% of the patients presented adverse drugs reactions with a predominance of bleeding while 25% of these patients were carriers of at least one polymorphic allele. We propose that new regulatory single-nucleotide variants (SNVs) might potentially influence the response to clopidogrel in Colombian individuals.

Uveitis and Multiple Sclerosis: Potential Common Causal Mutations.

Uveitis, defined as inflammation of the uveal tract of the eye, is a leading cause of blindness and visual impairment throughout the world. The etiology of uveitis is complex, and autoimmunity plays a major role in its pathogenesis. Intermediate uveitis (IU), a subtype of ocular inflammation, has been associated with systemic autoimmune disorders, specifically with multiple sclerosis (MS). This article reports a rare three-generation family with several members affected by IU (four siblings) and comorbid MS (two siblings fulfilling MS diagnostic criteria and a third sibling presenting some neurological symptoms). Based on the clinical findings, we captured and sequenced whole exomes of seven pedigree members (affected and unaffected). Using a recessive model of transmission with full penetrance, we applied genetic linkage analysis to define minimal critical regions (MCRs) in suggestive or nominal regions of linkage. In these MCRs, we defined functional (some pathogenic), novel, and rare mutations that segregated as homozygous in affected and heterozygous in unaffected family members. The genes harboring these mutations, including DGKI, TNFRSF10A, GNGT1, CPAMD8, and BAFF, which are expressed in both eye and brain tissues and/or are related to autoimmune diseases, provide new avenues to evaluate the inherited causes of these devastating autoimmune conditions.

A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy.

BACKGROUND: Electrocardiographic measures of left ventricular hypertrophy (LVH) are used as predictors of cardiovascular risk. We combined linkage and association analyses to discover novel rare genetic variants involved in three such measures and two principal components derived from them. METHODS: The study was conducted among participants from the Erasmus Rucphen Family Study (ERF), a Dutch family-based sample from the southwestern Netherlands. Variance components linkage analyses were performed using Merlin. Regions of interest (LOD > 1.9) were fine-mapped using microarray and exome sequence data. RESULTS: We observed one significant LOD score for the second principal component on chromosome 15 (LOD score = 3.01) and 12 suggestive LOD scores. Several loci contained variants identified in GWAS for these traits; however, these did not explain the linkage peaks, nor did other common variants. Exome sequence data identified two associated variants after multiple testing corrections were applied. CONCLUSIONS: We did not find common SNPs explaining these linkage signals. Exome sequencing uncovered a relatively rare variant in MAPK3K11 on chromosome 11 (MAF = 0.01) that helped account for the suggestive linkage peak observed for the first principal component. Conditional analysis revealed a drop in LOD from 2.01 to 0.88 for MAP3K11, suggesting that this variant may partially explain the linkage signal at this chromosomal location. MAP3K11 is related to the JNK pathway and is a pro-apoptotic kinase that plays an important role in the induction of cardiomyocyte apoptosis in various pathologies, including LVH.